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Ronde EM, Nolte JW, Becking AG, Breugem CC. Interrater Reliability for Classifying Craniofacial Microsomia Severity: A Call for Objective Evaluation. Cleft Palate Craniofac J 2025; 62:619-626. [PMID: 37993999 DOI: 10.1177/10556656231216557] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2023] Open
Abstract
ObjectiveThe severity of craniofacial microsomia (CFM) is generally classified using the Orbit, Mandible, Ear, Soft tissue, Nerve (OMENS) classification score. The global assessment of the Phenotypic Assessment Tool for Craniofacial Microsomia (PAT-CFM), is a pictorial modification of the OMENS classification. The aim of this study was to assess the interrater reliability of the PAT-CFM global assessment score.DesignIn this prospective cohort study, three clinicians completed the global assessment form of the PAT-CFM. The mandible was classified based on orthopantomogram- and/or computed tomography images.ParticipantsConsecutive patients with CFM or microtia.Main Outcome MeasureInterrater agreement was calculated using the weighted Krippendorff alpha (α), with 95% confidence intervals (CI).ResultsIn total, 53 patients were included (106 hemifaces). The reliabilities of the main classification components ranged from high for the mandible (α = 0.904 [95% CI 0.860-0.948]) and ear (α = 0.958 [95% CI 0.934-0.983]) subscales, to tentative for the orbital summary score (α = 0.682 [0.542-0.821]), and nerve summary score (α = 0.782 [0.666-0.900]) subscales.ConclusionsThe reliability of the ear and radiographic mandible scales of the PAT-CFM global classification were high, while the orbit, facial nerve and soft tissue subscales may have limited reliability. Research focusing on radiographic severity scores for hypoplasia of the orbits and soft tissues, as well as objective measures for overall facial hypoplasia using non-ionizing forms of imaging for early classification, are warranted.
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Affiliation(s)
- Elsa M Ronde
- Department of Plastic, Reconstructive and Hand Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
- Department of Oral and Maxillofacial Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
- Amsterdam UMC Expert Center for Cleft, Craniofacial and Airway Disorders, Amsterdam, the Netherlands
| | - Jitske W Nolte
- Department of Oral and Maxillofacial Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam UMC Expert Center for Cleft, Craniofacial and Airway Disorders, Amsterdam, the Netherlands
| | - Alfred G Becking
- Department of Oral and Maxillofacial Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
- Amsterdam UMC Expert Center for Cleft, Craniofacial and Airway Disorders, Amsterdam, the Netherlands
| | - Corstiaan C Breugem
- Department of Plastic, Reconstructive and Hand Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands
- Amsterdam UMC Expert Center for Cleft, Craniofacial and Airway Disorders, Amsterdam, the Netherlands
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2
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Anstadt EE, Birgfeld CB. Craniofacial Microsomia. Clin Plast Surg 2025; 52:219-225. [PMID: 39986884 DOI: 10.1016/j.cps.2024.09.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/24/2025]
Abstract
Patients with craniofacial microsomia comprise a diverse clinical cohort that requires individualized attention and surgical consideration that benefits from multidisciplinary team management to optimize functionality and esthetics. Specific concerns regarding airway, vision, feeding, growth, hearing, speech, development, and quality of life may require intervention. The full reconstructive ladder may be utilized in the care of these patients. Ultimately, tailoring surgery to optimize final facial symmetry while minimizing the burden of surgical interventions serves these patients well.
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Affiliation(s)
- Erin E Anstadt
- Division of Plastic Surgery, University of Utah and Primary Children's Hospital, Salt Lake City, UT, USA
| | - Craig B Birgfeld
- Division of Plastic Surgery, Seattle Children's Hospital and University of Washington School of Medicine, 4800 Sand Point Way, Seattle, WA 98105, USA.
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3
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Clarkson MD, Roggenkamp S, Detwiler LT. Developing libraries of semantically-augmented graphics as visual standards for biomedical information systems. J Biomed Inform 2025; 163:104804. [PMID: 39961540 PMCID: PMC11899390 DOI: 10.1016/j.jbi.2025.104804] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/31/2024] [Revised: 02/09/2025] [Accepted: 02/14/2025] [Indexed: 02/24/2025]
Abstract
OBJECTIVE Visual representations generally serve as supplements to information, rather than as bearers of computable information themselves. Our objective is to develop a method for creating semantically-augmented graphic libraries that will serve as visual standards and can be implemented as visual assets in intelligent information systems. METHODS Graphics were developed using a composable approach and specified using SVG. OWL was used to represent the entities of our system, which include elements, units, graphics, graphic libraries, and library collections. A graph database serves as our data management system. Semantics are applied at multiple levels: (a) each element is associated with a semantic style class to link visual style to semantic meaning, (b) graphics are described using object properties and data properties, (c) relationships are specified between graphics, and (d) mappings are made between the graphics and outside resources. RESULTS The Graphic Library web application enables users to browse the libraries, view information pages for each graphic, and download individual graphics. We demonstrate how SPARQL can be employed to query the graphics database and the APIs can be used to retrieve the graphics and associated data for applications. In addition, this work shows that our method of designing composable graphics is well-suited to depicting variations in human anatomy. CONCLUSION This work provides a bridge between visual communication and the field of knowledge representation. We demonstrate a method for creating visual standards that are compatible with practices in biomedical ontology and implement a system for making them accessible to information systems.
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Affiliation(s)
- Melissa D Clarkson
- Division of Biomedical Informatics, University of Kentucky, Multidisciplinary Science Building, Room 230C, Lexington, KY 40506, USA.
| | - Steven Roggenkamp
- Division of Biomedical Informatics, University of Kentucky, Multidisciplinary Science Building, Room 230C, Lexington, KY 40506, USA.
| | - Landon T Detwiler
- Division of Biomedical Informatics, University of Kentucky, Multidisciplinary Science Building, Room 230C, Lexington, KY 40506, USA.
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4
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Stock NM, Costa B, Parnell J, Johns AL, Crerand CE, Billaud Feragen K, Stueckle LP, Mills A, Magee L, Hotton M, Tumblin M, Schefer A, Drake AF, Heike CL. A Conceptual Thematic Framework of Psychological Adjustment in Caregivers of Children with Craniofacial Microsomia. Cleft Palate Craniofac J 2024:10556656241245284. [PMID: 38584503 PMCID: PMC11458819 DOI: 10.1177/10556656241245284] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/09/2024] Open
Abstract
OBJECTIVE Children with craniofacial microsomia (CFM) have complex healthcare needs, resulting in evaluations and interventions from infancy onward. Yet, little is understood about families' treatment experiences or the impact of CFM on caregivers' well-being. To address this gap, the NIH-funded 'Craniofacial microsomia: Accelerating Research and Education (CARE)' program sought to develop a conceptual thematic framework of caregiver adjustment to CFM. DESIGN Caregivers reported on their child's medical and surgical history. Narrative interviews were conducted with US caregivers (n = 62) of children aged 3-17 years with CFM. Transcripts were inductively coded and final themes and subthemes were identified. RESULTS Components of the framework included: 1) Diagnostic Experiences, including pregnancy and birth, initial emotional responses, communication about the diagnosis by healthcare providers, and information-seeking behaviors; 2) Child Health and Healthcare Experiences, including feeding, the child's physical health, burden of care, medical decision-making, surgical experiences, and the perceived quality of care; 3) Child Development, including cognition and behavior, educational provision, social experiences, and emotional well-being; and 4) Family Functioning, including parental well-being, relationships, coping strategies, and personal growth. Participants also identified a series of "high" and "low" points throughout their journey and shared their priorities for future research. CONCLUSIONS Narrative interviews provided rich insight into caregivers' experiences of having a child with CFM and enabled the development of a conceptual thematic framework to guide clinical care and future research. Information gathered from this study demonstrates the need to incorporate evidence-based psychological support for families into the CFM pathway from birth onward.
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Affiliation(s)
- Nicola M Stock
- Centre for Appearance Research, University of the West of England, Bristol, UK
| | - Bruna Costa
- Centre for Appearance Research, University of the West of England, Bristol, UK
| | - Jade Parnell
- Centre for Appearance Research, University of the West of England, Bristol, UK
| | - Alexis L Johns
- Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA
| | | | | | - Laura P Stueckle
- Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA
| | - Angela Mills
- Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA
| | - Leanne Magee
- Buerger Center for Advanced Pediatric Care, Children's Hospital of Philadelphia, Philadelphia, PA, USA
| | - Matthew Hotton
- Oxford Institute of Clinical Psychology Training and Research, University of Oxford, Oxford, England
| | - Melissa Tumblin
- Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA
| | - Amy Schefer
- Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA
| | - Amelia F Drake
- Department of Otolaryngology/Head and Neck Surgery, University of North Carolina at Chapel School of Medicine, Chapel Hill, NC, USA
| | - Carrie L Heike
- Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA
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5
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Tio PAE, Rooijers W, de Gier HHW, Poldermans HG, Koudstaal MJ, Caron CJJM. Velopharyngeal insufficiency, speech, and language impairment in craniofacial microsomia: a scoping review. Br J Oral Maxillofac Surg 2024; 62:30-37. [PMID: 38057178 DOI: 10.1016/j.bjoms.2023.09.008] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/11/2023] [Accepted: 09/22/2023] [Indexed: 12/08/2023]
Abstract
This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients. Velopharyngeal insufficiency results in hypernasality can lead to speech impairment. The reported prevalence of both velopharyngeal insufficiency and hypernasality ranged between 12.5% and 55%, while the reported prevalence of speech impairment in patients with CFM varied between 35.4% and 74%. Language problems were reported in 37% to 50% of patients. Speech therapy was documented in 45.5% to 59.6% of patients, while surgical treatment for velopharyngeal insufficiency consisted of pharyngeal flap surgery or pharyngoplasty and was reported in 31.6% to 100%. Cleft lip and/or palate was reported in 10% to 100% of patients with CFM; these patients were found to have worse speech results than those without cleft lip and/or palate. No consensus was found on patient characteristics associated with an increased risk of velopharyngeal insufficiency and speech/language impairment. Although velopharyngeal insufficiency is a less commonly reported characteristic of CFM than other malformations, it can cause speech impairment, which may contribute to delayed language development in patients with CFM. Therefore, timely recognition and treatment of speech impairment is essential.
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Affiliation(s)
- Pauline A E Tio
- The Dutch Craniofacial Centre, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands.
| | - Wietse Rooijers
- The Dutch Craniofacial Centre, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands
| | - Henriëtte H W de Gier
- Department of Otorhinolaryngology, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands
| | - Henriëtte G Poldermans
- Speech and Language Centre, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands
| | - Maarten J Koudstaal
- The Dutch Craniofacial Centre, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands
| | - Cornelia J J M Caron
- The Dutch Craniofacial Centre, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Centre, Sophia's Children's Hospital Rotterdam, Rotterdam, The Netherlands
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6
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Ronde EM, Nolte JW, Kruisinga FH, Maas SM, Lapid O, Ebbens FA, Becking AG, Breugem CC. Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey Study. Cleft Palate Craniofac J 2023; 60:1118-1127. [PMID: 35469463 PMCID: PMC10466995 DOI: 10.1177/10556656221093912] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 08/24/2023] Open
Abstract
To (1) appraise current international classification and clinical management strategies for craniofacial microsomia (CFM) and microtia, and (2) to assess agreement with the European Reference Network "European Guideline Craniofacial Microsomia" recommendations on screening and monitoring. This was a cross-sectional online survey study. The survey consisted of 44 questions on demographics, diagnostics and classification, obstructive sleep apnea, feeding difficulties, speech and language development, hearing, ocular abnormalities, visual development, orthodontic screening, genetic counselling, psychological wellbeing, and extracraniofacial anomalies. Respondents were participants of 3 international cleft and craniofacial conferences, members of the American Cleft Palate and Craniofacial Association and members of the International Society for Auricular Reconstruction. Respondents were requested to complete 1 questionnaire per multidisciplinary team. Fifty-seven responses were received from 30 countries (response rate ∼3%).The International Consortium for Health Outcomes Measurement diagnostic criteria were used by 86% of respondents, though 65% considered isolated microtia a mild form of CFM. The Orbit, Mandible, Ear, Facial Nerve and Soft Tissue classification system was used by 74% of respondents. Agreement with standardized screening and monitoring recommendations was between 61% and 97%. A majority of respondents agreed with screening for extracraniofacial anomalies (63%-68%) and with genetic counselling (81%). This survey did not reveal consistent agreement on the diagnostic criteria for CFM. Respondents mostly supported management recommendations, but frequently disagreed with the standardization of care. Future studies could focus on working towards international consensus on diagnostic criteria, and exploring internationally feasible management strategies.
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Affiliation(s)
- Elsa M. Ronde
- Amsterdam UMC location University of Amsterdam, Plastic, Reconstructive and Hand Surgery, Amsterdam, the Netherlands
- Amsterdam UMC location University of Amsterdam, Oral and Maxillofacial Surgery, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development, Amsterdam, the Netherlands
| | - Jitske W. Nolte
- Amsterdam UMC location University of Amsterdam, Oral and Maxillofacial Surgery, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development, Amsterdam, the Netherlands
- Amsterdam Movement Sciences, Amsterdam, the Netherlands
| | - Frea H. Kruisinga
- Amsterdam UMC location University of Amsterdam, Pediatrics, Amsterdam, the Netherlands
| | - Saskia M. Maas
- Amsterdam Reproduction and Development, Amsterdam, the Netherlands
- Amsterdam UMC location University of Amsterdam, Clinical Genetics, Amsterdam, the Netherlands
| | - Oren Lapid
- Amsterdam UMC location University of Amsterdam, Plastic, Reconstructive and Hand Surgery, Amsterdam, the Netherlands
- Amsterdam Movement Sciences, Amsterdam, the Netherlands
| | - Fenna A. Ebbens
- Amsterdam UMC location University of Amsterdam, Otorhinolaryngology, Amsterdam, the Netherlands
- Amsterdam Public Health, Ear and Hearing, Amsterdam, the Netherlands
| | - Alfred G. Becking
- Amsterdam UMC location University of Amsterdam, Oral and Maxillofacial Surgery, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development, Amsterdam, the Netherlands
- Amsterdam Movement Sciences, Amsterdam, the Netherlands
| | - Corstiaan C. Breugem
- Amsterdam UMC location University of Amsterdam, Plastic, Reconstructive and Hand Surgery, Amsterdam, the Netherlands
- Amsterdam Reproduction and Development, Amsterdam, the Netherlands
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7
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Renkema RW, de Vreugt V, Heike CL, Padwa BL, Forrest CR, Dunaway DJ, Wolvius E, Caron CJ, Koudstaal MJ. Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia. J Craniofac Surg 2023; 34:1780-1783. [PMID: 37264504 PMCID: PMC10445631 DOI: 10.1097/scs.0000000000009446] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2023] [Accepted: 04/16/2023] [Indexed: 06/03/2023] Open
Abstract
Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.
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Affiliation(s)
- Ruben W. Renkema
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia’s Children’s Hospital Rotterdam
| | - V. de Vreugt
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia’s Children’s Hospital Rotterdam
| | | | - Bonnie L. Padwa
- The Craniofacial Centre, Boston Children’s Hospital, Boston, MA
| | | | | | - E.B. Wolvius
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia’s Children’s Hospital Rotterdam
| | - Cornelia J.J.M. Caron
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia’s Children’s Hospital Rotterdam
| | - Maarten J. Koudstaal
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia’s Children’s Hospital Rotterdam
- The Craniofacial Centre, Boston Children’s Hospital, Boston, MA
- The Craniofacial Unit, Great Ormond Street Hospital, London, UK
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8
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Renkema RW, van Beelen I, Koudstaal MJ, Caron CJJM. The effect of natural growth on chin point deviation in patients with unilateral craniofacial microsomia: A retrospective study. J Craniomaxillofac Surg 2022; 50:615-620. [PMID: 35872040 DOI: 10.1016/j.jcms.2022.07.006] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2020] [Revised: 10/27/2021] [Accepted: 07/12/2022] [Indexed: 10/17/2022] Open
Abstract
This study aimed to investigate the potential progressiveness of mandibular asymmetry and to study factors that influence chin point deviation in patients with unilateral craniofacial microsomia (CFM). Paediatric patients with unilateral CFM with available radiologic imaging and medical photographs were included. Chin point deviation was measured on clinical photographs. A Jonckheere-Terpstra test and linear mixed model for repeated measurements assessed the relation of chin point deviation on natural growth, Pruzansky-Kaban score, and soft tissue score. A total of 110 patients were included. The linear mixed model showed no statistically significant changes of chin point deviation during growth (effect estimate -0.006°, 95% CI -0.04° to -0.03°, p = 0.74). A statistical significant relation between both the Pruzansky-Kaban and soft tissue score on chin point deviation was found (effect estimate -5.10°, 95% CI -6.45° to -3.75°, p ≤ 0.001 and effect estimate -3.42°, CI -5.86° to -0.98°, p ≤ 0.001, respectively). Within the limitations of the study it seems that craniofacial microsomia may be a non-progressive disorder, because chin point deviation did not change over time.
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Affiliation(s)
- Ruben W Renkema
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, the Netherlands.
| | - Irene van Beelen
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, the Netherlands
| | - Maarten J Koudstaal
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, the Netherlands
| | - Cornelia J J M Caron
- The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, the Netherlands
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A new treatment strategy for hemifacial microsomia: Auricular reconstruction with an expanded two-flap method and simultaneous mandibular distraction osteogenesis. J Plast Reconstr Aesthet Surg 2022; 75:1950-1957. [PMID: 35183465 DOI: 10.1016/j.bjps.2022.01.035] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/26/2020] [Revised: 12/22/2021] [Accepted: 01/18/2022] [Indexed: 11/21/2022]
Abstract
BACKGROUND Owing to the complex clinical manifestations of hemifacial microsomia (HFM), multidisciplinary cooperation is required to achieve better therapeutic effects in terms of function and aesthetics. This study aimed to explore the efficacy of the expanded two-flap auricular reconstruction combined with mandibular distraction osteogenesis in the treatment of HFM. METHODS This surgical strategy was performed in three stages. In the first stage, the retroauricular skin was expanded with a tissue expander and a mandibular distraction device was installed. In the second stage, the traditional expanded two-flap method for auricular reconstruction was adapted, and the framework was fabricated with costal cartilage and wrapped with the expanded skin flap, retroauricular fascia flap, and full-thickness skin graft. In the final stage, the tragus and lobule were rebuilt, the concha cavity deepened, and the mandibular distraction device removed. RESULTS From January 2014 to November 2018, 166 HFM patients underwent auricular reconstruction with the expanded two-flap method and simultaneous mandibular extension in our hospital. The median follow-up period was 9.3 months. Of the 166 patients, 154 patients and their families were satisfied with the results, and only 16 patients experienced complications. CONCLUSIONS This three-stage technique of simultaneous auricular reconstruction and mandibular distraction osteogenesis is safe and effective in achieving facial symmetry, improving occlusal contact, shortening treatment course, and relieving patient's suffering, especially for HFM patients.
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10
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Renkema RW, Caron CJJM, Heike CL, Koudstaal MJ. A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned? J Plast Reconstr Aesthet Surg 2022; 75:1781-1792. [PMID: 35365411 DOI: 10.1016/j.bjps.2022.02.058] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2021] [Revised: 01/31/2022] [Accepted: 02/15/2022] [Indexed: 10/18/2022]
Abstract
AIM This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research. METHOD A systematic search of literature was conducted in Embase and PubMed/MEDLINE Ovid. All publications from 2010 to 2020 that included at least 10 individuals with CFM were considered relevant for this study. RESULTS A total of 91 articles were included. In the past decade, many new studies on CFM have been published providing more insight on the diagnosis and management of patients with CFM. This review encompasses findings on the clinical difficulties patients with CFM encounter, including the craniofacial and extracraniofacial characteristics of patients with CFM and its related clinical consequences on breathing, feeding, speech, and hearing. CONCLUSIONS A considerable number of large multicenter studies have been published in recent years, providing new insights in the clinical consequences of CFM. The phenotypic variety between patients with CFM makes patient-specific treatment tailored to individual needs essential. The research and development of clinical care standards might be challenging because of the heterogeneity of CFM. Future research on clinical and patient-reported outcomes can help identify optimal treatment strategies. Cooperation between craniofacial centers, using uniform registration and outcome measurement tools, could enhance research and future care for these patients. LEVEL OF EVIDENCE Level IV.
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Affiliation(s)
- Ruben W Renkema
- Department of Oral and Maxillofacial Surgery, The Dutch Craniofacial Center, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, 's Gravendijkwal 230, Rotterdam 3015 CE, the Netherland.
| | - Cornelia J J M Caron
- Department of Oral and Maxillofacial Surgery, The Dutch Craniofacial Center, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, 's Gravendijkwal 230, Rotterdam 3015 CE, the Netherland
| | - Carrie L Heike
- Seattle Children's Craniofacial Center, Seattle, United States
| | - Maarten J Koudstaal
- Department of Oral and Maxillofacial Surgery, The Dutch Craniofacial Center, Erasmus University Medical Center, Sophia's Children's Hospital Rotterdam, 's Gravendijkwal 230, Rotterdam 3015 CE, the Netherland
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11
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Rooijers W, Tio P, van der Schroeff M, Padwa B, Dunaway D, Forrest C, Koudstaal M, Caron C. Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg 2022; 51:1296-1304. [DOI: 10.1016/j.ijom.2022.01.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/07/2021] [Revised: 01/06/2022] [Accepted: 01/12/2022] [Indexed: 10/19/2022]
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12
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Bergamini LL, Spineli-Silva S, Félix TM, Gil-da-Silva-Lopes VL, Vieira TP, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Fontes MÍB, Monlleó IL. Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases. Congenit Anom (Kyoto) 2021; 61:148-158. [PMID: 33900643 DOI: 10.1111/cga.12422] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/06/2020] [Revised: 01/29/2021] [Accepted: 03/22/2021] [Indexed: 12/22/2022]
Abstract
This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyotype and chromosomal microarray analysis. Sex ratio, prenatal risk factors, and recurrence rate corroborated the literature. Despite the wide variability of clinical findings, ear disruption was universal. Eight patients were assigned as syndromic, four of whom had demonstrable genetic alterations. The majority of patients (67.2%) fulfilled four known diagnostic criteria, while 9.8% fulfilled one of them. Data strengthened disruptions of the ear and deafness as a semiotically valuable sign in CFM. Facial impairment should consider asymmetry as a mild expression of microsomia. Spinal and cardiac anomalies, microcephaly, and developmental delay were prevalent among extra craniofacial features and should be screened before planning treatment and follow up. The severity index was able to recognize the less and the most affected patients. However, it was not useful to support therapeutic decisions and prognosis in the clinical scenario due to syndromic and non-syndromic phenotypes overlapping. These issues make contemporary the debate on diagnostic methods and disease severity assessment for CFM. They also impact care and etiopathogenetic studies.
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Affiliation(s)
- Luna Lira Bergamini
- Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil
| | - Samira Spineli-Silva
- Department of Translational Medicine, Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
| | - Têmis Maria Félix
- Medical Genetics Service, Clinical Hospital of Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil
| | - Vera L Gil-da-Silva-Lopes
- Department of Translational Medicine, Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
| | - Tarsis P Vieira
- Department of Translational Medicine, Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
| | - Erlane Marques Ribeiro
- Medical Genetics Service, Children's Hospital Albert Sabin (HIAS), Fortaleza, Ceará, Brazil
| | - Ana Carolina Xavier
- Center for Research and Rehabilitation of Lip and Palate Lesions, Prefeito Luiz Gomes Center, Joinville, Santa Catarina, Brazil
| | | | | | - Isabella L Monlleó
- Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.,Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil
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13
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Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study. Int J Oral Maxillofac Surg 2021; 50:1303-1311. [PMID: 33752938 DOI: 10.1016/j.ijom.2021.02.032] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/17/2020] [Accepted: 02/05/2021] [Indexed: 11/22/2022]
Abstract
The aim of this multicentre retrospective cohort study was to describe and categorize the types of ocular and adnexal anomalies seen in patients with craniofacial microsomia (CFM) and to determine their prevalence. In addition, the relationship between the OMENS-Plus and Pruzansky-Kaban classification for each patient and the presence of ocular anomalies was investigated. A total of 881 patients with CFM from four different craniofacial centres were included. Data on ocular anomalies were gathered from the patient charts. Ocular anomalies were present in 33.9% of patients. Four subgroups of ocular and adnexal anomalies were identified. Type I ocular anomalies were present in 22.2%, type II in 19.0%, type III in 18.4%, and type IV in 14.5%. Several potentially preventable and treatable ocular anomalies were identified. Higher OMENS-Plus classification orbit and soft tissue scores and Pruzansky-Kaban classification mandible scores were associated with an increased risk of ocular anomalies. Based on these results and the clinical implications ocular anomalies may have, we underline the importance of targeted ophthalmological screening in CFM. Healthcare professionals should be aware of the possibility of ocular anomalies in these patients, especially during the critical period for visual development.
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14
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Xu X, Wang B, Jiang Z, Chen Q, Mao K, Shi X, Yan C, Hu J, Zha Y, Ma C, Zhang J, Guo R, Wang L, Zhao S, Liu H, Zhang Q, Zhang YB. Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis. Hum Mol Genet 2021; 30:1045-1056. [PMID: 33615373 DOI: 10.1093/hmg/ddab055] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/16/2020] [Revised: 01/03/2021] [Accepted: 02/16/2021] [Indexed: 11/13/2022] Open
Abstract
Craniofacial microsomia (CFM, OMIM%164 210) is one of the most common congenital facial abnormalities worldwide, but it's genetic risk factors and environmental threats are poorly investigated, as well as their interaction, making the diagnosis and prenatal screening of CFM impossible. We perform a comprehensive association study on the largest CFM cohort of 6074 samples. We identify 15 significant (P < 5 × 10-8) associated genomic loci (including eight previously reported) and decipher 107 candidates based on multi-omics data. Gene Ontology term enrichment found that these candidates are mainly enriched in neural crest cell (NCC) development and hypoxic environment. Single-cell RNA-seq data of mouse embryo demonstrate that nine of them show dramatic expression change during early cranial NCC development whose dysplasia is involved in pathogeny of CFM. Furthermore, we construct a well-performed CFM risk-predicting model based on polygenic risk score (PRS) method and estimate seven environmental risk factors that interacting with PRS. Single-nucleotide polymorphism-based PRS is significantly associated with CFM [P = 7.22 × 10-58, odds ratio = 3.15, 95% confidence interval (CI) 2.74-3.63], and the top fifth percentile has a 6.8-fold CFM risk comparing with the 10th percentile. Father's smoking increases CFM risk as evidenced by interaction parameter of -0.324 (95% CI -0.578 to -0.070, P = 0.011) with PRS. In conclusion, the newly identified risk loci will significantly improve our understandings of genetics contribution to CFM. The risk prediction model is promising for CFM prediction, and father's smoking is a key environmental risk factor for CFM through interacting with genetic factors.
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Affiliation(s)
- Xiaopeng Xu
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China.,Bioland Laboratory, Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510320, China
| | - Bingqing Wang
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Zhuoyuan Jiang
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China.,School of Biological Science and Medical Engineering, Beihang University, Beijing 100191, China
| | - Qi Chen
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Ke Mao
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China.,School of Biological Science and Medical Engineering, Beihang University, Beijing 100191, China
| | - Xiaofeng Shi
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China
| | - Chun Yan
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China
| | - Jintian Hu
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Yan Zha
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China.,School of Biological Science and Medical Engineering, Beihang University, Beijing 100191, China
| | - Chao Ma
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China.,School of Biological Science and Medical Engineering, Beihang University, Beijing 100191, China
| | - Jiao Zhang
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Rui Guo
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Liguo Wang
- Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA
| | - Shouqin Zhao
- Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
| | - Huisheng Liu
- Bioland Laboratory, Guangzhou Regenerative Medicine and Health Guangdong Laboratory, Guangzhou 510320, China
| | - Qingguo Zhang
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Yong-Biao Zhang
- Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Medicine and Engineering, Beihang University, Beijing 100191, China.,Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing 100191, China
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15
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Song JY, Yang H, He X, Gao S, Wu GM, Hu M, Zhang Y. Surgery-first for a patient with mild hemifacial microsomia: A case report and review of literature. World J Clin Cases 2021; 9:148-162. [PMID: 33511179 PMCID: PMC7809674 DOI: 10.12998/wjcc.v9.i1.148] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/16/2020] [Revised: 10/12/2020] [Accepted: 11/04/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Hemifacial microsomia (HFM) is the second most common craniofacial congenital anomaly following cleft lip and palate. Because of the various phenotypic spectra and the severity of the deformity, a wide range of treatment approaches have been proposed. Recently, the surgery-first approach (SFA) was introduced to treat mild to moderate HFM, and it yielded a balanced facial appearance. The SFA not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.
CASE SUMMARY A female patient, aged 25 years old, sought orthodontic treatment with the chief complaint of dental and facial asymmetry. After a comprehensive physical examination and imaging analysis were performed, the patient was diagnosed with mild HFM that was primarily attributed to unilateral abnormal development of the maxilla-mandibular. The SFA was carried out to correct the skeletal deformity. The palatal suture was used as the midline of the maxilla in the surgical plan to center the maxilla, and the chin was also properly positioned to obtain a relatively symmetrical facial appearance. Four weeks after the surgery, the patient was referred for postsurgical orthodontics to decompensate the dentition and stabilize the occlusion. After 20 mo of treatment, all orthodontic appliances were removed. The posttreatment photographs of the patient and her smile confirmed good aesthetic and occlusal results.
CONCLUSION Mild HFM can be corrected by SFA, which not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.
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Affiliation(s)
- Ji-Yu Song
- Department of Orthodontics, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
| | - Hua Yang
- Department of General Dentistry, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
| | - Xi He
- Department of Prosthodontics, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
| | - Shuang Gao
- Department of Endodontics, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
| | - Guo-Min Wu
- Plastic Aesthetic Center, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
| | - Min Hu
- Department of Orthodontics, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
| | - Yi Zhang
- Department of Orthodontics, Hospital of Stomatology, Jilin University, Changchun 130000, Jilin Province, China
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16
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Complication After Mandibular Reconstruction With Fibula Free Flap in a Patient With Hemifacial Microsomia. J Craniofac Surg 2021; 32:1083-1086. [PMID: 33405458 DOI: 10.1097/scs.0000000000007368] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022] Open
Abstract
ABSTRACT Hemifacial microsomia is the second most frequent pathology in craniofacial malformations. Clinical findings are broad, mainly affecting the mandible. Several classifications of mandibular compromise exist that guide the best treatment option in each patient. The authors present a case of an unusual complication following fibular free flap mandibular reconstruction in a patient with hemifacial microsomia prada type IV, who presented with ankylosis at the skull base and simultaneous fibula pseudoarthrosis at the union with the residual mandible. These dual findings allowed the patient to have a functional mouth aperture, which give us time to let him grow and wait for final management. Treatment options and follow up are discussed, knowing that there is no literature to support any protocol with this patient, so we present his evolution.
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17
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Collett BR, Wallace ER, Kapp-Simon KA, Johns AL, Drake AF, Heike CL, Kinter S, Luquetti DV, Magee L, Norton S, Sie K, Speltz ML. Cognitive, Motor, and Language Development of Preschool Children With Craniofacial Microsomia. Cleft Palate Craniofac J 2020; 58:1169-1177. [PMID: 33322943 DOI: 10.1177/1055665620980223] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022] Open
Abstract
OBJECTIVE To examine neurodevelopment in preschool-aged children with craniofacial microsomia (CFM) relative to unaffected peers. DESIGN Multisite, longitudinal cohort study. SETTING Tertiary care centers in the United States. PARTICIPANTS We included 92 children with CFM ("cases") through craniofacial centers and clinics. Seventy-six children without CFM (controls) were included from pediatric practices and community advertisements. This study reports on outcomes assessed when participants were an average age of 38.4 months (SD = 1.9). MAIN OUTCOME MEASURES We assessed cognitive and motor skills using the Bayley Scales of Infant and Toddler Development, third edition (Bayley-III), and language function using subtests from the Clinical Evaluation of Language Fundamentals-Preschool, second edition (CELF-P2). RESULTS Case-control differences were negligible for Bayley-III cognitive (effect sizes [ES] = -0.06, P = .72) and motor outcomes (ES = -0.19, P = .25). Cases scored lower than controls on most scales of the CELF-P2 (ES = -0.58 to -0.20, P = .01 to .26). Frequency counts for "developmental delay" (ie, one or more scores > 1 SD below the normative mean) were higher for cases (39%) than controls (15%); however, the adjusted odds ratio = 1.73 (P = 0.21) was not significant. Case-control differences were most evident in children with microtia or other combinations of CFM-related facial features. CONCLUSIONS Cognitive and motor scores were similar for preschool-aged children with and without CFM. However, children with CFM scored lower than controls on language measures. We recommend early monitoring of language to identify preschoolers with CFM who could benefit from intervention.
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Affiliation(s)
- Brent R Collett
- Department of Psychiatry and Behavioral Sciences, 7284University of Washington, Seattle, WA, USA
| | - Erin R Wallace
- Center for Child Health, Behavior, and Development, Seattle Children's Research Institute, Seattle, WA, USA
| | - Kathleen A Kapp-Simon
- Department of Surgery, University of Illinois at Chicago and 24183Shriners Hospitals for Children, Chicago, IL, USA
| | - Alexis L Johns
- Clinical Pediatrics, 5150Children's Hospital of Los Angeles, Los Angeles, CA, USA
| | - Amelia F Drake
- Department of Otolaryngology/Head and Neck Surgery, 2331University of North Carolina, Chapel Hill, NC, USA
| | - Carrie L Heike
- Division of Craniofacial Medicine, Department of Pediatrics, 7274Seattle Children's Hospital, Seattle, WA, USA
| | - Sara Kinter
- Seattle Children's Craniofacial Center, Seattle, WA, USA
| | - Daniela V Luquetti
- Division of Craniofacial Medicine, Department of Pediatrics, 7274Seattle Children's Hospital, Seattle, WA, USA
| | - Leanne Magee
- Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA
| | - Susan Norton
- Department of Otolaryngology, 7284University of Washington, Seattle, WA, USA
| | - Kathleen Sie
- Department of Otolaryngology, 7284University of Washington, Seattle, WA, USA
| | - Matthew L Speltz
- Department of Psychiatry and Behavioral Sciences, 7284University of Washington, Seattle, WA, USA
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18
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Hemifacial Microsomia Review: Recent Advancements in Understanding the Disease. J Craniofac Surg 2020; 31:2123-2127. [PMID: 33136839 DOI: 10.1097/scs.0000000000006616] [Citation(s) in RCA: 16] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/15/2022] Open
Abstract
Hemifacial microsomia (HFM) is the second most common congenital disability of the face, with a prevalence of 1 in 3000 to 5600 live births. Although etiology is still not fully understood, including both genetics and environmental factors, the latest reports indicate the prominence of premature loss of the neural crest cells. What is more, a deficit of muscles of mastication, except the masseter, correlates in the pathomechanism of mandibular underdevelopment. Due to the significant phenotypic diversification, the typical picture of HFM cannot be determined. It may present as an esthetic concern-minor asymmetry with deformed auricle, and on the contrary, as microtia/anotia with conductive type hearing loss, hypoplastic mandible, and microphthalmia, impairing patient's daily activities. Referring to psychosocial problems, it has been proved that in population with HFM, there is a modestly elevated risk for behavior problems, social competence, and less acceptance. Over the years, more comprehensive methods of assessing the extent and severity of the HFM as the OMENS (+) classification have emerged. The authors like to summarize and present for plastic surgery resident and plastic surgeons the critical features of HFM, including the epidemiology, clinical presentation, pathogenesis, and innovative management reported in the current literature.
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19
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Rooijers W, Caron C, Loudon S, Padwa B, Dunaway D, Forrest C, Koudstaal M. Ocular and adnexal anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg 2020; 49:1107-1114. [DOI: 10.1016/j.ijom.2020.03.003] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/17/2019] [Revised: 02/24/2020] [Accepted: 03/03/2020] [Indexed: 10/24/2022]
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20
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Abstract
BACKGROUND Craniofacial syndromes occur in approximately 1 in 5600 to 100,000 infants, often resulting in significant morbidity. Due to the heterogeneity of this patient population, no clear consensus consists on optimal treatment modalities and timing. The aim of this study was to analyze the craniofacial syndrome population that were treated at the University Hospital Leuven. METHODS A retrospective analysis of patients with a clinical diagnosis of a craniofacial syndrome was performed. Inclusion criteria were patients with a clinical diagnosis of a craniofacial syndrome and that received treatment between "2000-2005" and "2010-2015." Patients with nonsyndromic conditions were excluded. Data regarding patient characteristics, treatment modalities, and treatment outcomes were analyzed. RESULTS After matching the inclusion criteria, 98 eligible patients, affected by 40 different syndromes were included. In the period of "2000 to 2005," 48 patients were treated, as compared to 50 patients in the period of "2010 to 2015." A statistically significant decrease over time is seen for cleft surgery and orthodontic treatment (P = 0.0017 and P = 0.0015, respectively). No statistically significant differences were found concerning the age at which treatment was received (P = 0.42). Significant associations between treatment modalities were found for orthognathic surgery and distraction osteogenesis (P < 0.0001), orthognathic surgery and orthodontic treatment (P < 0.0001), and between orthodontic treatment and distraction osteogenesis (P = 0.03311). CONCLUSION A decline in cleft reconstruction surgery and orthodontic treatment for patients with craniofacial syndromes was seen over time. A significant association was found between distraction osteogenesis and orthognathic surgery, possibly due to higher reintervention rates for patients treated at a young age.
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21
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Khorasani H, Boljanovic S, Knudsen MAK, Jakobsen LP. Surgical management of the Tessier 7 cleft: A review and presentation of 5 cases. JPRAS Open 2019; 22:9-18. [PMID: 32158892 PMCID: PMC7061684 DOI: 10.1016/j.jpra.2019.07.004] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2019] [Accepted: 07/04/2019] [Indexed: 01/16/2023] Open
Abstract
INTRODUCTION Several variations on the surgical technique for macrostomia repair have been described in the literature. There has been controversy regarding the preferred method for commissuroplasty and skin closure for optimal functional and aesthetic results. The aim of this study is to present these techniques and the most described methods up to date.Further, five patients operated with a combination of techniques are presented. MATERIAL AND METHODS PRISMA guidelines were followed for literature review.Five consecutive patients with unilateral macrostomia operated during a period of one and a half years at our craniofacial department were included in this study. RESULTS 31 studies on macrostomia repair were obtained. The layered closure technique is widely described with several variations on closure of the inner mucosa, orbicularis muscle, commissure and skin. The inner mucosal layer is in most cases sutured with a straight line closure technique. The muscle is most often duplicated and sutured with upper branches overlapping lower branches. The skin is in most cases sutured with either a z- or a w-plasty with variations.The five presented patients all had satisfactory functional and aesthetic results at follow-up. CONCLUSION Many variations of surgical techniques for macrostomia repair have been presented in the past. We believe that each case of macrostomia needs to be assessed with a tailored surgical plan in order to create the best results. A combination of different techniques with Bütow and Botha's and Kaplan's technique as a starting point, is believed to give satisfactory functional and aesthetic results.
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Affiliation(s)
- Hoda Khorasani
- Department of Plastic Surgery, Breast Surgery and Burns Treatment, Section 2102, Centre of Head and Orthopaedics, Rigshospitalet, Copenhagen University Hospital, Denmark
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22
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Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients. Int J Oral Maxillofac Surg 2019; 48:1169-1176. [DOI: 10.1016/j.ijom.2019.01.031] [Citation(s) in RCA: 19] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/12/2018] [Accepted: 01/18/2019] [Indexed: 11/23/2022]
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23
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Siebold B, Heike CL, Leroux BG, Speltz ML, Drake AF, Johns AL, Kapp-Simon KA, Magee L, Luquetti DV. Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia. Birth Defects Res 2019; 111:649-658. [PMID: 30927385 PMCID: PMC6602800 DOI: 10.1002/bdr2.1502] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/04/2019] [Revised: 03/03/2019] [Accepted: 03/13/2019] [Indexed: 11/09/2022]
Abstract
OBJECTIVES Craniofacial microsomia (CFM) is a congenital condition that typically involves hypoplasia of the ear and jaw. It is often associated with adverse effects such as hearing loss and sleep-disordered breathing. There is little research on its etiology. METHODS We conducted a case-control study from maternal interview data collected from mothers of infants with and without CFM. The study included 108 children with and 84 children without CFM. Logistic regression with adjustment for demographic factors was used to evaluate associations between maternal exposures of interest and risk for CFM overall, as well as for different phenotypic sub-groups of children on the CFM spectrum. RESULTS We found a statistically significant association between diabetes mellitus (DM) and CFM (OR 4.01, 95% CI 1.6-10.5). The association was slightly attenuated after adjustment for BMI. Higher parity was also associated with increased risk for CFM (OR 2.0, 95% CI 1.0-4.0). Vitamin A consumption and/or liver consumption was associated with a 70% lower risk compared with non-users (OR 0.3, 95% 0.1-0.8). Maternal age at the time of pregnancy was not associated with CFM. CONCLUSIONS These analyses contribute evidence linking maternal DM with an elevated risk of having an infant with CFM, which is consistent with previous research and adds to the body of knowledge about the strength of this association. Further study is warranted to understand the potential mechanisms underlying the effect of DM in the developing embryo.
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Affiliation(s)
- Babette Siebold
- Seattle Children’s Research Institute, Seattle, WA
- Seattle Children’s Hospital, Seattle, WA
| | - Carrie L. Heike
- Seattle Children’s Research Institute, Seattle, WA
- Seattle Children’s Hospital, Seattle, WA
- University of Washington School of Medicine, Seattle, WA
| | | | - Matthew L. Speltz
- Seattle Children’s Research Institute, Seattle, WA
- Seattle Children’s Hospital, Seattle, WA
- University of Washington School of Medicine, Seattle, WA
| | | | | | - Kathleen A. Kapp-Simon
- Shriners Hospital for Children, Chicago, IL
- University of Illinois at Chicago, Chicago, IL
| | - Leanne Magee
- Children’s Hospital of Philadelphia, Philadelphia, PA
| | - Daniela V. Luquetti
- Seattle Children’s Research Institute, Seattle, WA
- Seattle Children’s Hospital, Seattle, WA
- University of Washington School of Medicine, Seattle, WA
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24
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Abstract
Clinicians use different diagnostic terms for patients with underdevelopment of facial features arising from the embryonic first and second pharyngeal arches, including first and second branchial arch syndrome, otomandibular dysostosis, oculoauriculovertebral syndrome, and hemifacial microsomia. Craniofacial microsomia has become the preferred term. Although no diagnostic criteria for craniofacial microsomia exist, most patients have a degree of underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve. These anomalies can affect feeding, compromise the airway, alter facial movement, disrupt hearing, and alter facial appearance.
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Affiliation(s)
- Craig Birgfeld
- Pediatric Plastic and Craniofacial Surgery, Seattle Children's Hospital, 4800 Sand Point Way, M/S OB.9.520, PO Box 5371, Seattle, WA 98105, USA.
| | - Carrie Heike
- Craniofacial Pediatrics, Seattle Children's Hospital, 4800 Sand Point Way, M/S OB.9.528, PO Box 5371, Seattle, WA 98105, USA
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25
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26
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Sims ME. Legal Briefs: Was the Adverse Outcome from Goldenhar Syndrome or Hypoxic-Ischemic Events? Neoreviews 2019; 20:e245-e247. [PMID: 31261068 DOI: 10.1542/neo.20-4-e245] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/09/2023]
Affiliation(s)
- Maureen E Sims
- Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA
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27
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Ahmed M, Ali S. Computer guided temporomandibular joint reconstruction of Kaban III hemifacial microsomia with anotia: A case report. Int J Surg Case Rep 2019; 57:52-56. [PMID: 30903854 PMCID: PMC6430716 DOI: 10.1016/j.ijscr.2019.03.005] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2018] [Revised: 02/08/2019] [Accepted: 03/07/2019] [Indexed: 12/18/2022] Open
Abstract
INTRODUCTION, Hemifacial microsomia is the second most common craniofacial congenital anomaly. It corresponds to a group of malformations ranging from minimal facial asymmetry to sever form affecting mandible, soft tissues, orbit, ear, and cranial nerves. PRESENTATION OF CASE, We present a case of 6 years old patient with Kaban class III hemifacial microsomia with anotia. Temporomandibular joint was reconstructed by costochondral graft using computer guided surgery (simulation and rapid prototyping). A computer guided soft tissue guide, mandibular, and maxillomandibular/zygomatic models were constructed using rapid prototyping technology. The customized computer guided soft tissue guide was used to localize the proper position of skin incision, the mandibular model was used for preoperative reconstruction plate bending, and the maxillomandibular/zygomatic model was used to estimate the rib graft length and position. Postoperative assessment showed proper positioning of the graft, with no complications or facial nerve affection. DISCUSSION, In this report, we introduce a new computer guided technique to estimate and identify the proper position of the temporomandibular joint graft based on patient CT. This technique eliminated the need of extended incisions with excessive dissection and provided a more accessible field for rib graft fixation, facilitating the surgical procedures. CONCLUSION, The use of computer guided surgery (simulation and rapid prototyping) for temporomandibular joint reconstruction in Kaban III hemifacial microsomia with anotia facilitates the surgical procedure, minimizes procedure time, increases precision, and reduces possible complications.
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Affiliation(s)
- Mamdouh Ahmed
- Oral and Maxillofacial Surgery Department, Faculty of Dentistry, Cairo University, Cairo, Egypt; Cranio-maxillofacial surgery Department, Nasser institute for research and treatment, Cairo, Egypt.
| | - Sherif Ali
- Oral and Maxillofacial Surgery Department, Faculty of Dentistry, Cairo University, Cairo, Egypt.
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28
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Luquetti DV, Speltz ML, Wallace ER, Siebold B, Collett BR, Drake AF, Johns AL, Kapp-Simon KA, Kinter SL, Leroux BG, Magee L, Norton S, Sie K, Heike CL. Methods and Challenges in a Cohort Study of Infants and Toddlers With Craniofacial Microsomia: The Clock Study. Cleft Palate Craniofac J 2019; 56:877-889. [PMID: 30621445 DOI: 10.1177/1055665618821014] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022] Open
Abstract
OBJECTIVE The Craniofacial microsomia: Longitudinal Outcomes in Children pre-Kindergarten (CLOCK) study is a longitudinal cohort study of neurobehavioral outcomes in infants and toddlers with craniofacial microsomia (CFM). In this article, we review the data collection and methods used to characterize this complex condition and describe the demographic and clinical characteristics of the cohort. SETTING Craniofacial and otolaryngology clinics at 5 study sites. PARTICIPANTS Infants with CFM and unaffected infants (controls) ages 12 to 24 months were recruited from the same geographical regions and followed to age 36 to 48 months. METHODS Phenotypic, neurodevelopmental, and facial expression assessments were completed during the first and third waves of data collection (time 1 and time 3, respectively). Medical history data were taken at both of these time points and during an intermediate parent phone interview (time 2). RESULTS Our cohort includes 108 cases and 84 controls. Most cases and controls identified as white and 55% of cases and 37% of controls identified as Hispanic. Nearly all cases had microtia (95%) and 59% had mandibular hypoplasia. Cases received extensive clinical care in infancy, with 59% receiving care in a craniofacial clinic and 28% experiencing at least one surgery. Study visits were completed at a study site (92%) or at the participant's home (8%). CONCLUSIONS The CLOCK study represents an effort to overcome the challenges of characterizing the phenotypic and neurodevelopmental outcomes of CFM in a large, demographically and geographically diverse cohort.
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Affiliation(s)
- Daniela V Luquetti
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA.,3 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | - Matthew L Speltz
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA.,3 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | - Erin R Wallace
- 1 Seattle Children's Research Institute, Seattle, WA, USA
| | - Babette Siebold
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA
| | - Brent R Collett
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA.,3 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | | | | | - Kathleen A Kapp-Simon
- 6 Shriners Hospitals for Children, Chicago, IL, USA.,7 University of Illinois, Chicago, IL, USA
| | - Sara L Kinter
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA
| | - Brian G Leroux
- 8 University of Washington School of Dentistry, Seattle, WA, USA
| | - Leanne Magee
- 9 Children's Hospital of Philadelphia, Philadelphia, PA, USA
| | - Susan Norton
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA.,3 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | - Kathleen Sie
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA.,3 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | - Carrie L Heike
- 1 Seattle Children's Research Institute, Seattle, WA, USA.,2 Seattle Children's Hospital, Seattle, WA, USA.,3 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
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The effects of society on the psychosocial functioning of those with a facial difference. HEALTH PSYCHOLOGY REPORT 2019. [DOI: 10.5114/hpr.2019.85657] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
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Caron CJ, Pluijmers BI, Joosten K, Dunaway D, Padwa BL, Wolvius EB, Koudstaal MJ. Feeding difficulties in craniofacial microsomia: A multicenter retrospective analysis of 755 patients. J Craniomaxillofac Surg 2018; 46:1777-1782. [DOI: 10.1016/j.jcms.2018.07.017] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2018] [Revised: 06/29/2018] [Accepted: 07/23/2018] [Indexed: 10/28/2022] Open
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Using principal component analysis to describe the midfacial deformities in patients with craniofacial microsomia. J Craniomaxillofac Surg 2018; 46:2032-2041. [PMID: 30318324 DOI: 10.1016/j.jcms.2018.09.019] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2018] [Revised: 05/09/2018] [Accepted: 09/17/2018] [Indexed: 12/26/2022] Open
Abstract
PURPOSE Craniofacial microsomia (CFM) is the result of a disturbance in embryologic development and is characterised by an asymmetric, mostly unilateral facial underdevelopment. The aim of this study is to understand the midfacial involvement in CFM using principal component analysis (PCA). MATERIALS AND METHODS Pre-operative data from 19 CFM and 23 control patients were collected. A set of 71 landmarks was placed on three-dimensional (3D) reconstructions of all skulls to compare both populations. PCA visualised variation within both groups and calculated the vector of change. Linear measurements were taken to compare ratios between the populations and between the affected and unaffected sides in CFM patients. RESULTS PCA defined a vector that described shape changes between both populations. Videos showed the variation within the control and CFM group and the transformation from a mean CFM skull into a normal phenotype. Linear measurements showed a significant difference between the affected and unaffected sides in CFM patients. CONCLUSION PCA has not been applied on asymmetrical data before, but it has proved to be a useful method to describe CFM. The virtual normalisation of a mean CFM skull enables visualisation of the bony shape changes, which is promising to delineate and to plan surgical correction and could be used as an outcome measure.
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Pluijmers BI, van de Lande LS, Caron CJ, Wolvius EB, Dunaway DJ, Padwa BL, Koudstaal MJ. Part 2: Is the maxillary canting and its surgical correction in patients with CFM correlated to the mandibular deformity? J Craniomaxillofac Surg 2018; 46:1436-1440. [DOI: 10.1016/j.jcms.2018.05.044] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2017] [Revised: 04/23/2018] [Accepted: 05/22/2018] [Indexed: 01/05/2023] Open
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Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review. J Craniomaxillofac Surg 2018; 46:1427-1435. [DOI: 10.1016/j.jcms.2018.05.043] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2017] [Revised: 04/23/2018] [Accepted: 05/22/2018] [Indexed: 12/30/2022] Open
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Speltz ML, Kapp-Simon KA, Johns AL, Wallace ER, Collett BR, Magee L, Leroux BG, Luquetti DV, Heike CL. Neurodevelopment of Infants with and without Craniofacial Microsomia. J Pediatr 2018; 198:226-233.e3. [PMID: 29685618 PMCID: PMC6019149 DOI: 10.1016/j.jpeds.2018.02.076] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/08/2017] [Revised: 02/15/2018] [Accepted: 02/27/2018] [Indexed: 12/31/2022]
Abstract
OBJECTIVES To determine whether infant cases with craniofacial microsomia (CFM) evidence poorer neurodevelopmental status than demographically similar infants without craniofacial diagnoses ("controls"), and to examine cases' neurodevelopmental outcomes by facial phenotype and hearing status. STUDY DESIGN Multicenter, observational study of 108 cases and 84 controls aged 12-24 months. Participants were assessed by the Bayley Scales of Infant and Toddler Development-Third Edition and the Preschool Language Scales-Fifth Edition (PLS-5). Facial features were classified with the Phenotypic Assessment Tool for Craniofacial Microsomia. RESULTS After adjustment for demographic variables, there was little difference in Bayley Scales of Infant and Toddler Development-Third Edition or Preschool Language Scales-Fifth Edition outcomes between cases and controls. Estimates of mean differences ranged from -0.23 to 1.79 corresponding to standardized effect sizes of -.02 to 0.12 (P values from .30 to .88). Outcomes were better among females and those with higher socioeconomic status. Among cases, facial phenotype and hearing status showed little to no association with outcomes. Analysis of individual test scores indicated that 21% of cases and 16% of controls were developmentally delayed (OR 0.68, 95% CI 0.29-1.61). CONCLUSIONS Although learning problems have been observed in older children with CFM, we found no evidence of developmental or language delay among infants. Variation in outcomes across prior studies may reflect differences in ascertainment methods and CFM diagnostic criteria.
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Affiliation(s)
- Matthew L Speltz
- Centers for Child Health, Behavior and Development, Developmental Biology & Regenerative Medicine, and Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA; Departments of Pediatrics and Psychiatry and Behavioral Medicine, University of Washington School of Medicine, Seattle, WA.
| | - Kathleen A Kapp-Simon
- Cleft-Craniofacial Center, Shriners Hospital for Children, Chicago, IL; Craniofacial Center, Department of Surgery, University of Illinois, Chicago, IL
| | - Alexis L Johns
- Division of Plastic and Maxillofacial Surgery, Children's Hospital of Los Angeles, Los Angeles, CA
| | - Erin R Wallace
- Centers for Child Health, Behavior and Development, Developmental Biology & Regenerative Medicine, and Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA
| | - Brent R Collett
- Centers for Child Health, Behavior and Development, Developmental Biology & Regenerative Medicine, and Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA; Departments of Pediatrics and Psychiatry and Behavioral Medicine, University of Washington School of Medicine, Seattle, WA
| | - Leanne Magee
- Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA
| | - Brian G Leroux
- University of Washington School of Dentistry, Seattle, WA
| | - Daniela V Luquetti
- Centers for Child Health, Behavior and Development, Developmental Biology & Regenerative Medicine, and Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA; Departments of Pediatrics and Psychiatry and Behavioral Medicine, University of Washington School of Medicine, Seattle, WA
| | - Carrie L Heike
- Centers for Child Health, Behavior and Development, Developmental Biology & Regenerative Medicine, and Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA; Departments of Pediatrics and Psychiatry and Behavioral Medicine, University of Washington School of Medicine, Seattle, WA
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Wallace ER, Collett BR, Heike CL, Werler MM, Speltz ML. Behavioral-Social Adjustment of Adolescents with Craniofacial Microsomia. Cleft Palate Craniofac J 2018; 55:664-675. [PMID: 29356621 DOI: 10.1177/1055665617750488] [Citation(s) in RCA: 17] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2022] Open
Abstract
OBJECTIVE The objective was to assess differences in psychosocial adjustment between adolescents with and without craniofacial microsomia (CFM). DESIGN This is a case-control follow-up study in adolescents with and without CFM. SETTING Participants were originally recruited as infants from 26 cities across the United States and Canada. PARTICIPANTS Participants included 142 adolescents with CFM (cases) and 316 peers without CFM (controls), their caregivers, and their teachers. MAIN OUTCOME MEASURES Social and behavior measures from the Achenbach System of Empirically Based Assessments (ASEBA), the PedsQL: Core Version, and the Children's Communication Checklist-2nd edition (CCC-2) were used. Linear regression was used to estimate case-control differences and corresponding standardized effect sizes (ES) and 95% confidence intervals after adjustment for sociodemographic confounds. We also examined case-control differences by facial phenotype and hearing status. RESULTS The magnitude and direction of case-control differences varied across assessment and respondent, but were generally modest (ES = -0.4 to 0.02, P values ranged from .003 to .85). There was little evidence for variation in case-control differences across different facial phenotypes or as a function of hearing status. CONCLUSIONS Our results suggest that in spite of multiple risk factors, adolescents with CFM exhibit behavior problems no more frequently than their peers without CFM. Future studies of individuals with CFM should focus on resilience and social coping mechanisms, in addition to maladjustment.
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Affiliation(s)
- Erin R Wallace
- 1 Center for Child Health, Behavior, and Development, Seattle Children's Research Institute, Seattle, WA, USA
| | - Brent R Collett
- 1 Center for Child Health, Behavior, and Development, Seattle Children's Research Institute, Seattle, WA, USA
- 2 Child and Adolescent Psychiatry and Behavioral Medicine, Seattle Children's Hospital, Seattle, WA, USA
- 3 Department of Psychiatry and Behavioral Medicine, University of Washington School of Medicine, Seattle, WA, USA
| | - Carrie L Heike
- 4 Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA
- 5 Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
| | | | - Matthew L Speltz
- 1 Center for Child Health, Behavior, and Development, Seattle Children's Research Institute, Seattle, WA, USA
- 2 Child and Adolescent Psychiatry and Behavioral Medicine, Seattle Children's Hospital, Seattle, WA, USA
- 3 Department of Psychiatry and Behavioral Medicine, University of Washington School of Medicine, Seattle, WA, USA
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Mitchell RM, Saltzman BS, Norton SJ, Harrison RG, Heike CL, Luquetti DV, Sie KC. Hearing Loss in Children with Craniofacial Microsomia. Cleft Palate Craniofac J 2017; 54:656-663. [DOI: 10.1597/15-348] [Citation(s) in RCA: 17] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
Objective To evaluate the association between craniofacial phenotype and hearing loss in children with craniofacial microsomia. Design Retrospective cohort study. Setting Tertiary care children's hospital. Patients Individuals with craniofacial microsomia. Main Outcome Measures Ear-specific audiograms and standardized phenotypic classification of facial characteristics. Results A total of 79 participants were included in the study. The mean age was 9 years (range, 1 to 23 years) and approximately 60% were boys. Facial anomalies were bilateral in 39 participants and unilateral in 40 participants (24 right, 16 left). Microtia (hypoplasia of the ear) was the most common feature (94%), followed by mandibular hypoplasia (76%), soft tissue deficiency (60%), orbital hypoplasia or displacement (53%), and facial nerve palsy (32%). Sixty-five individuals had hearing loss (12 bilateral and 53 unilateral). Hearing loss was conductive in 73% of affected ears, mixed in 10%, sensorineural in 1%, and indeterminate in 16%. Hypoplasia of the ear or mandible was frequently associated with ipsilateral hearing loss, although contralateral hearing loss occurred in 8% of hemifaces. Conclusions Hearing loss is strongly associated with malformations of the ipsilateral ear in craniofacial microsomia and is most commonly conductive. Hearing loss can occur contralaterally to the side with malformations in children with apparent hemifacial involvement. Children with craniofacial microsomia should receive early diagnostic hearing assessments.
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Affiliation(s)
- Ryan M. Mitchell
- Department of Otolaryngology–Head and Neck Surgery, University of Washington
| | | | - Susan J. Norton
- Division of Pediatric Audiology, Seattle Children's Hospital
| | | | - Carrie L. Heike
- Seattle Children's Hospital, and Department of Pediatrics, University of Washington
| | - Daniela V. Luquetti
- Seattle Children's Hospital, and Department of Pediatrics, University of Washington
| | - Kathleen C.Y. Sie
- Department of Otolaryngology–Head and Neck Surgery, University of Washington, and Division of Pediatric Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, Washington
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Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia. Plast Reconstr Surg 2017; 140:571-580. [PMID: 28841618 DOI: 10.1097/prs.0000000000003584] [Citation(s) in RCA: 23] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
BACKGROUND The authors compared the IQ and academic achievement of adolescents with craniofacial microsomia (cases) and unaffected children (controls). Among cases, the authors analyzed cognitive functioning by facial phenotype. METHODS The authors administered standardized tests of intelligence, reading, spelling, writing, and mathematics to 142 cases and 316 controls recruited from 26 cities across the United States and Canada. Phenotypic classification was based on integrated data from photographic images, health history, and medical chart reviews. Hearing screens were conducted for all participants. RESULTS After adjustment for demographics, cases' average scores were lower than those of controls on all measures, but the magnitude of differences was small (standardized effect sizes, -0.01 to -0.3). There was little evidence that hearing status modified case-control group differences (Wald p > 0.05 for all measures). Twenty-five percent of controls and 38 percent of cases were classified as having learning problems (adjusted OR, 1.5; 95 percent CI, 0.9 to 2.4). Comparison of cases with and without learning problems indicated that those with learning problems were more likely to be male, Hispanic, and to come from lower income, bilingual families. Analyses by facial phenotype showed that case-control group differences were largest for cases with both microtia and mandibular hypoplasia (effect sizes, -0.02 to -0.6). CONCLUSIONS The highest risk of cognitive-academic problems was observed in patients with combined microtia and mandibular hypoplasia. Developmental surveillance of this subgroup is recommended, especially in the context of high socioeconomic risk and bilingual families. Given the early stage of research on craniofacial microsomia and neurodevelopment, replication of these findings is needed. CLINICAL QUESTION/LEVEL OF EVIDENCE Risk, II.
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Caron CJ, Pluijmers BI, Wolvius EB, Looman C.W, Bulstrode N, Evans RD, Ayliffe P, Mulliken JB, Dunaway D, Padwa B, Koudstaal MJ. Craniofacial and extracraniofacial anomalies in craniofacial microsomia: A multicenter study of 755 patients. J Craniomaxillofac Surg 2017; 45:1302-1310. [DOI: 10.1016/j.jcms.2017.06.001] [Citation(s) in RCA: 38] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/09/2017] [Revised: 05/06/2017] [Accepted: 06/01/2017] [Indexed: 01/25/2023] Open
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Abstract
A retrospective cohort study was set up to analyse the prevalence and treatment of obstructive sleep apnoea (OSA) in relation to the severity of the deformity in patients with craniofacial microsomia (CFM). This study included a population of 755 patients with CFM from three craniofacial centres. Medical charts were reviewed for severity of the deformity, types of breathing difficulty, age at which breathing difficulty first presented, treatment for OSA, and treatment outcome. In total, 133 patients (17.6%) were diagnosed with OSA. Patients with Pruzansky IIB/III classification or bilateral craniofacial microsomia were significantly more often diagnosed with OSA than unilaterally affected patients of Pruzansky I/IIA classification. The initial treatment of OSA consisted of adenotonsillectomy, tracheotomy, or non-invasive positive pressure ventilation. Thirty-seven patients received more than one treatment (range 1-3). In this study, the prevalence of OSA in patients with CFM was higher than the prevalence in the healthy population described in the literature. Although several treatment modalities are available for the treatment of OSA in patients with CFM, treatment should be individualized and based on clinical symptoms, the severity of the deformity, and comorbidities.
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Heike CL, Wallace E, Speltz ML, Siebold B, Werler MM, Hing AV, Birgfeld CB, Collett BR, Leroux BG, Luquetti DV. Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research. BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY 2016; 106:915-926. [PMID: 27891784 PMCID: PMC11749019 DOI: 10.1002/bdra.23560] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/02/2016] [Revised: 06/22/2016] [Accepted: 07/14/2016] [Indexed: 07/27/2024]
Abstract
BACKGROUND Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. METHODS Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. RESULTS The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). CONCLUSION We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc.
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Affiliation(s)
- Carrie L. Heike
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
- University of Washington, Department of Pediatrics, Seattle, Washington
| | - Erin Wallace
- Seattle Children’s Research Institute, Seattle, Washington
| | - Matthew L. Speltz
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
- University of Washington, Department of Psychiatry & Behavioral Sciences, Seattle, Washington
| | - Babette Siebold
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
| | - Martha M. Werler
- Boston University, Epidemiology, Boston, Massachusetts
- Slone Epidemiology Center, Boston, Massachusetts
| | - Anne V. Hing
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
- University of Washington, Department of Pediatrics, Seattle, Washington
| | - Craig B. Birgfeld
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
- University of Washington, Department of Surgery, Seattle, Washington
| | - Brent R. Collett
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
- University of Washington, Department of Psychiatry & Behavioral Sciences, Seattle, Washington
| | - Brian G. Leroux
- University of Washington, Department of Oral Health Sciences, Seattle, Washington
- University of Washington, Department of Biostatistics, Seattle, Washington
| | - Daniela V. Luquetti
- Seattle Children’s Hospital, Craniofacial Center, Seattle, Washington
- Seattle Children’s Research Institute, Seattle, Washington
- University of Washington, Department of Pediatrics, Seattle, Washington
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Birgfeld CB, Heike CL, Saltzman BS, Leroux BG, Evans KN, Luquetti DV. Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs. Head Face Med 2016; 12:14. [PMID: 27029551 PMCID: PMC4815065 DOI: 10.1186/s13005-016-0109-x] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/14/2015] [Accepted: 03/16/2016] [Indexed: 01/19/2023] Open
Abstract
Background Craniofacial microsomia is a common congenital condition for which children receive longitudinal, multidisciplinary team care. However, little is known about the etiology of craniofacial microsomia and few outcome studies have been published. In order to facilitate large, multicenter studies in craniofacial microsomia, we assessed the reliability of phenotypic classification based on photographs by comparison with direct physical examination. Methods Thirty-nine children with craniofacial microsomia underwent a physical examination and photographs according to a standardized protocol. Three clinicians completed ratings during the physical examination and, at least a month later, using respective photographs for each participant. We used descriptive statistics for participant characteristics and intraclass correlation coefficients (ICCs) to assess reliability. Results The agreement between ratings on photographs and physical exam was greater than 80 % for all 15 categories included in the analysis. The ICC estimates were higher than 0.6 for most features. Features with the highest ICC included: presence of epibulbar dermoids, ear abnormalities, and colobomas (ICC 0.85, 0.81, and 0.80, respectively). Orbital size, presence of pits, tongue abnormalities, and strabismus had the lowest ICC, values (0.17 or less). There was not a strong tendency for either type of rating, physical exam or photograph, to be more likely to designate a feature as abnormal. The agreement between photographs and physical exam regarding the presence of a prior surgery was greater than 90 % for most features. Conclusions Our results suggest that categorization of facial phenotype in children with CFM based on photographs is reliable relative to physical examination for most facial features.
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Affiliation(s)
- Craig B Birgfeld
- Division of Plastic Surgery, Department of Surgery, University of Washington, Seattle, WA, USA.,Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.,Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA
| | - Carrie L Heike
- Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA. .,Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA. .,Department of Pediatrics, University of Washington, M/S OB.9.520, PO Box 5371 4800 Sand Point Way, Seattle, WA, 98105, USA.
| | - Babette S Saltzman
- Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.,Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA
| | - Brian G Leroux
- Department of Biostatistics, School of Public Health and Oral Health Sciences, School of Dentistry, University of Washington, Seattle, WA, USA
| | - Kelly N Evans
- Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.,Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA.,Department of Pediatrics, University of Washington, M/S OB.9.520, PO Box 5371 4800 Sand Point Way, Seattle, WA, 98105, USA
| | - Daniela V Luquetti
- Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA.,Department of Pediatrics, University of Washington, M/S OB.9.520, PO Box 5371 4800 Sand Point Way, Seattle, WA, 98105, USA.,Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA
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Denadai R, Raposo-Amaral CA, Buzzo CL, Raposo-Amaral CE. Isolated Autologous Free Fat Grafting for Management of Facial Contour Asymmetry in a Subset of Growing Patients With Craniofacial Microsomia. Ann Plast Surg 2016; 76:288-294. [PMID: 25954839 DOI: 10.1097/sap.0000000000000533] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Abstract
BACKGROUND To report autologous free fat grafting as an isolated procedure to manage facial contour asymmetry of a subset of growing patients with craniofacial microsomia (CFM). METHODS A retrospective analysis of CFM patients (n = 11) with low socioeconomic and intellectual status, poor oral hygiene, living far from our center, Pruzansky-Kaban I/II mandibles, without functional concerns, and with no craniofacial skeletal surgery who underwent isolated free fat grafting between 2012 and 2013 was conducted. Surgeon and parent/patient satisfaction were elicited. Computerized photogrammetric quantitative and qualitative facial symmetry analyses were performed. RESULTS All patients underwent isolated autologous free fat grafting to restore the facial contour symmetry. Surgeon and patient/parent were mostly satisfied. There were significant (all P < 0.05) postoperative quantitative facial symmetry enhancement and an overall qualitative facial symmetry enhancement. CONCLUSIONS A significant improvement of facial symmetry was obtained in this subset of growing CFM patients using only isolated free fat grafting.
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Affiliation(s)
- Rafael Denadai
- From the Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas, São Paulo, Brazil
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Zhang YB, Hu J, Zhang J, Zhou X, Li X, Gu C, Liu T, Xie Y, Liu J, Gu M, Wang P, Wu T, Qian J, Wang Y, Dong X, Yu J, Zhang Q. Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. Nat Commun 2016; 7:10605. [PMID: 26853712 PMCID: PMC4748111 DOI: 10.1038/ncomms10605] [Citation(s) in RCA: 40] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2015] [Accepted: 01/04/2016] [Indexed: 12/20/2022] Open
Abstract
Craniofacial microsomia (CFM) is a rare congenital anomaly that involves immature derivatives from the first and second pharyngeal arches. The genetic pathogenesis of CFM is still unclear. Here we interrogate 0.9 million genetic variants in 939 CFM cases and 2,012 controls from China. After genotyping of an additional 443 cases and 1,669 controls, we identify 8 significantly associated loci with the most significant SNP rs13089920 (logistic regression P=2.15 × 10(-120)) and 5 suggestive loci. The above 13 associated loci, harboured by candidates of ROBO1, GATA3, GBX2, FGF3, NRP2, EDNRB, SHROOM3, SEMA7A, PLCD3, KLF12 and EPAS1, are found to be enriched for genes involved in neural crest cell (NCC) development and vasculogenesis. We then perform whole-genome sequencing on 21 samples from the case cohort, and identify several novel loss-of-function mutations within the associated loci. Our results provide new insights into genetic background of craniofacial microsomia.
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Affiliation(s)
- Yong-Biao Zhang
- Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Jintian Hu
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Jiao Zhang
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
- Department of Anatomy and Cell Biology, Brody School of Medicine, East Carolina University, Greenville, North Carolina 27834, USA
| | - Xu Zhou
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Xin Li
- Department of Cardiology, Beijing Anzhen Hospital of the Capital University of Medical Sciences, Beijing 100029, China
| | - Chaohao Gu
- Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
| | - Tun Liu
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Yangchun Xie
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Jiqiang Liu
- Beijing KPS biotechnology, Beijing 102206, China
| | - Mingliang Gu
- Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
| | - Panpan Wang
- Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
| | - Tingting Wu
- Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
| | - Jin Qian
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Yue Wang
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
| | - Xiaoqun Dong
- Department of Internal Medicine, College of Medicine, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
| | - Jun Yu
- Chinese Academy of Sciences and Key Laboratory of Genome Science and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
| | - Qingguo Zhang
- Department of Ear Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
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Jacob FD, Kanigan A, Richer L, El Hakim H. Unilateral Möbius syndrome: two cases and a review of the literature. Int J Pediatr Otorhinolaryngol 2014; 78:1228-31. [PMID: 24951398 DOI: 10.1016/j.ijporl.2014.05.036] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/26/2014] [Revised: 05/22/2014] [Accepted: 05/25/2014] [Indexed: 11/16/2022]
Abstract
IMPORTANCE The Möbius sequence is a rare condition defined by the combination of congenital non-progressive facial and abducens nerve palsies. The etiology of the sequence is still unknown, but likely encompasses a group of heterogeneous disorders involving genetic maldevelopment of the brainstem, a fetal vascular insult and/or teratogen exposure. The clinical phenotype reported has expanded over the years, and may be associated with more extensive cranial nerve and oropharyngeal involvement, as well as limb defects. OBSERVATIONS We describe two cases of children presenting with unilateral Möbius syndrome associated with ipsilateral unilateral palatal weakness. Investigations failed to identified a clear underlying etiology, but both cases shared phenotypic features of other more common cranial facial disorders such as craniofacial microsomia and the velocardiofacial syndrome. CONCLUSION AND RELEVANCE These two cases highlight the clinical heterogeneity of the Möbius sequence. Although asymmetries are not uncommon, cases with strictly unilateral features are extremely rare, and as such these may represent a distinct subgroup that may pertain to a specific etiology. Although in many cases, evidence of an intrauterine vascular insult may be identified, a contributing genetic etiology should be considered, even in cases with strictly unilateral features. As such genes expressed in the developing rhombencephalon and its vasculature represent good candidates for future investigation.
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Affiliation(s)
- F D Jacob
- Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
| | - A Kanigan
- Department of Radiology, University of Alberta, Edmonton, Alberta, Canada
| | - L Richer
- Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada
| | - H El Hakim
- Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada; Divisions of Otolaryngology and Pediatric Surgery, University of Alberta, Edmonton, Alberta, Canada; Department of Surgery, University of Alberta, Edmonton, Alberta, Canada.
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Heike CL, Hing AV, Aspinall CA, Bartlett SP, Birgfeld CB, Drake AF, Pimenta LA, Sie KC, Urata MM, Vivaldi D, Luquetti DV. Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 2013; 163C:271-82. [PMID: 24132932 DOI: 10.1002/ajmg.c.31373] [Citation(s) in RCA: 43] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/15/2023]
Abstract
Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.
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Abstract
Craniofacial microsomia (CFM) is one of the most common congenital conditions treated in craniofacial centers worldwide. This condition is variably associated with anomalies of the jaws, ears, facial soft tissue, orbits, and facial nerve function and can be associated with extracranial anomalies. The cause of this condition is unknown, though CFM has been associated withprenatalexposures and genetic abnormalities. Diagnosis, treatment, and outcome assessment in CFM is challenging due to the wide phenotypic spectrum observed in this condition. Surgical treatment requires a coordinated team approach involving multiple specialties, which can include plastic surgery, craniofacial surgery, orthognathic surgery, and microsurgery. A wide variety of surgical options exist, and individual treatment plans should be based on the patient's needs. Although CFM can be challenging to treat, successful outcomes are rewarding. We provide a review of the common craniofacial surgical treatments for individuals with CFM.
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Affiliation(s)
- Craig B Birgfeld
- Division of Plastic Surgery, Department of Surgery, University of Washington, Seattle Children's Hospital, Seattle, Washington
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Birgfeld CB, Saltzman BS, Luquetti DV, Latham K, Starr JR, Heike CL. Comparison of Two-Dimensional and Three-Dimensional Images for Phenotypic Assessment of Craniofacial Microsomia. Cleft Palate Craniofac J 2013; 50:305-14. [DOI: 10.1597/11-173] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
Background and Purpose Three-dimensional surface imaging is used in many craniofacial centers. However, few data exist to indicate whether such systems justify their cost. Craniofacial microsomia is associated with wide phenotypic variability and can affect most facial features. The purpose of this study is to compare three-dimensional versus two-dimensional images for classification of facial features in individuals with craniofacial microsomia. Methods We obtained a series of two-dimensional and three-dimensional images of 50 participants, aged 0-20 years, diagnosed with craniofacial microsomia, microtia, or Goldenhar syndrome. Three clinicians classified the craniofacial features on each image, and ratings were compared by calculating kappa statistics. We also evaluated image quality using a 5-point Likert scale. Results Reliability estimates were high for most features using both two-dimensional and three-dimensional image data. Our three-dimensional protocol did not allow for scoring of facial animation, occlusal cant, or tongue anomalies. Image quality scores for the mandible and soft tissue assessment were higher for three-dimensional images. Raters preferred two-dimensional photographs for assessment of the ear, ear canal, and eyes. Conclusions Both three-dimensional and two-dimensional images provide useful data for objective characterization of the craniofacial features affected in craniofacial microsomia. A series of two-dimensional images has relative advantages for assessment of some specific features, such as the ear, though three-dimensional images may have advantages for quantitative analysis and qualitative assessment of deformities of the jaw and soft tissue. These results should apply to any assessment of these features with or without a craniofacial microsomia diagnosis.
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Affiliation(s)
- Craig B. Birgfeld
- Division of Plastic Surgery, Department of Surgery, University of Washington, and Seattle Children's Hospital, Bethesda, Maryland
| | | | | | - Kerry Latham
- Walter Reed Hospital, Military Medical Center, Bethesda, Maryland
| | | | - Carrie L. Heike
- Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, and Seattle Children's Hospital, Seattle, Washington
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Heike CL, Stueckle LP, Stuhaug ET, Pimenta LA, Drake AF, Vivaldi D, Sie KCY, Birgfeld CB. Photographic protocol for image acquisition in craniofacial microsomia. Head Face Med 2011; 7:25. [PMID: 22208766 PMCID: PMC3286411 DOI: 10.1186/1746-160x-7-25] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/20/2011] [Accepted: 12/30/2011] [Indexed: 11/17/2022] Open
Abstract
Craniofacial microsomia (CFM) is a congenital condition associated with orbital, mandibular, ear, nerve, and soft tissue anomalies. We present a standardized, two-dimensional, digital photographic protocol designed to capture the common craniofacial features associated with CFM.
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Affiliation(s)
- Carrie L Heike
- Children's Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.
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