|
1
|
Yamagishi H, Monden Y, Michigami T, Tachikawa K, Osaka H, Nozaki Y, Tajima T. A case of osteopathia striata with cranial sclerosis with facial nerve palsies. Pediatr Int 2023; 65:e15648. [PMID: 37804062 DOI: 10.1111/ped.15648] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/21/2023] [Revised: 06/21/2023] [Accepted: 08/07/2023] [Indexed: 10/08/2023]
Affiliation(s)
| | - Yukifumi Monden
- Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan
| | - Toshimi Michigami
- Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Japan
| | - Kanako Tachikawa
- Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Japan
| | - Hitoshi Osaka
- Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan
| | - Yasuyuki Nozaki
- Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan
- Department of Pediatrics, Shin-Oyama City Hospital, Oyama, Japan
| | - Toshihiro Tajima
- Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan
| |
Collapse
|
|
2
|
Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings. Clin Dysmorphol 2016; 25:45-9. [PMID: 26886897 DOI: 10.1097/mcd.0000000000000116] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
Abstract
We report recurrence of osteopathia striata with cranial sclerosis (OSCS) in two full siblings conceived by unaffected parents. Molecular confirmation of OSCS in both siblings was achieved by identification of a novel heterozygous mutation in the WTX gene. Neither parent had clinical features of OSCS nor was the pathogenic mutation demonstrable in DNA extracted from both peripheral blood leucocytes and buccal cells. This case demonstrates germline mosaicism in OSCS and represents the third report of mosaicism affecting the germline in families with OSCS. Previous reports were of parental gonadosomal mosaicism, with one showing recurrence in multiple children. Our observation adds to a body of evidence that suggests that germline mosaicism in OSCS may occur more frequently than believed previously and may have implications for counselling families with OSCS.
Collapse
|
|
3
|
Park HC, Kim HG, Kim YH, Kim JH, Kim MY, Kim KW. Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient. Maxillofac Plast Reconstr Surg 2014; 36:285-91. [PMID: 27489848 PMCID: PMC4283534 DOI: 10.14402/jkamprs.2014.36.6.285] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/04/2014] [Revised: 10/07/2014] [Accepted: 10/20/2014] [Indexed: 11/21/2022] Open
Abstract
Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear bone dysplasia at the long bone radiographically and sclerotic change at the cranium. The purpose of this case report is to study the symptoms and treatments of osteomyelitis in a patient with OS-CS. A 41-year-old patient had pus discharge from a fistula at the mental region and increase in radiolucencies with sequestra in panoramic radiograph images. Computed tomography (CT) as well as radiograph images for the whole skeleton were taken. The patient was diagnosed with OS-CS. Sequestrectomy and fistulectomy were performed. The patient recovered and no relapse occurred within six months after surgery. For diagnosis of OS-CS, CT and additional radiograph images for the whole skeleton are required. Because of the increased bone density, this patient is prone to relapse after sequestrectomy. Therefore, the surgeon must minimize trauma with the least incision and exfoliation, and preoperative antibiotics.
Collapse
Affiliation(s)
- Heung-Chul Park
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University
| | - Hang-Gul Kim
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University
| | - Yong-Hwan Kim
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University
| | - Joo-Hwan Kim
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University
| | - Moon-Young Kim
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University
| | - Kyung-Wook Kim
- Department of Oral and Maxillofacial Surgery, College of Dentistry, Dankook University
| |
Collapse
|
|
4
|
Cattaneo E, Ciceri S, Liberati N, Radice P, Tarani L, Selicorni A, Perotti D. Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene. World J Med Genet 2014; 4:34-38. [DOI: 10.5496/wjmg.v4.i2.34] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/29/2013] [Revised: 02/10/2014] [Accepted: 02/18/2014] [Indexed: 02/06/2023] Open
Abstract
Osteopathia striata with cranial sclerosis (OSCS, OMIM#300373) is an X-linked dominant sclerosing bone dysplasia that shows a distinct phenotype in females and males. In 2009, Zandra Jenkins et al found that germline mutations in the FAM123B/WTX/AMER1 gene, mapped to chromosome Xq11.2, cause both the familial and sporadic forms of OSCS. Intriguingly, the WTX gene was already known as a putative tumor suppressor gene, since in 2007 Rivera et al had reported inactivating WTX mutations in Wilms’ tumor (WT), the most frequent renal tumor of childhood. Here we review the heterogeneous clinical presentation of OSCS patients and the involvement of WTX anomalies in OSCS and in WT.
Collapse
|
|
5
|
Holman SK, Morgan T, Baujat G, Cormier-Daire V, Cho TJ, Lees M, Samanich J, Tapon D, Hove HD, Hing A, Hennekam R, Robertson SP. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. Clin Genet 2013; 83:251-6. [DOI: 10.1111/j.1399-0004.2012.01905.x] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/18/2012] [Revised: 05/25/2012] [Accepted: 06/04/2012] [Indexed: 11/29/2022]
Affiliation(s)
- SK Holman
- Department of Paediatrics; Dunedin School of Medicine, Otago University; Dunedin New Zealand
| | - T Morgan
- Department of Paediatrics; Dunedin School of Medicine, Otago University; Dunedin New Zealand
| | - G Baujat
- Département de Génétique; Hôpital Necker-Enfants Malades; Paris France
| | - V Cormier-Daire
- Département de Génétique; Hôpital Necker-Enfants Malades; Paris France
| | - T-J Cho
- Division of Pediatric Orthopaedics; Seoul National University Children's Hospital; Seoul Korea
| | - M Lees
- Department of Clinical Genetics; Great Ormond Street Hospital; London UK
| | - J Samanich
- Department of Pediatrics, Division of Genetics; Montefiore Medical Center; Bronx NY USA
| | - D Tapon
- Centre for Fetal Care; Queen Charlotte's and Chelsea Hospital; London UK
| | - HD Hove
- Department of Clinical Genetics; Copenhagen University Hospital; Rigshospitalet 2100 Copenhagen Denmark
| | - A Hing
- Department of Pediatrics; University of Washington School of Medicine; Seattle Washington, DC 98195 USA
| | - R Hennekam
- Department of Pediatrics; Academic Medical Center, University of Amsterdam; Amsterdam The Netherlands
| | - SP Robertson
- Department of Paediatrics; Dunedin School of Medicine, Otago University; Dunedin New Zealand
| |
Collapse
|
|
6
|
Herman SB, Holman SK, Robertson SP, Davidson L, Taragin B, Samanich J. Severe osteopathia striata with cranial sclerosis in a female case with wholeWTXgene deletion. Am J Med Genet A 2013; 161A:594-9. [DOI: 10.1002/ajmg.a.35716] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2012] [Accepted: 09/24/2012] [Indexed: 01/01/2023]
|
|
7
|
Zicari AM, Tarani L, Perotti D, Papetti L, Nicita F, Liberati N, Spalice A, Salvatori G, Guaraldi F, Duse M. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features. Ital J Pediatr 2012; 38:27. [PMID: 22716240 PMCID: PMC3416731 DOI: 10.1186/1824-7288-38-27] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/25/2012] [Accepted: 06/20/2012] [Indexed: 12/22/2022] Open
Abstract
Osteopathia striata with cranial sclerosis (OS-CS) or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia, characterized by longitudinal striations of long bones and cranial sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism, sensory defects, internal organs anomalies, growth and mental retardation, depending on the severity of the disease. WTX gene (Xq11) has been recently identified as the disease causing gene. Aim of this article is to present the case of a 6 year old girl initially evaluated for bilateral hearing loss. Patient's head CT scan pointed out sclerosis of skull base and mastoid cells, and abnormal middle-ear ossification. Clinical examination of the patient and her mother were suspicious for OS-CS. The diagnosis was confirmed by X-rays examination showing typical longitudinal striation. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X) WTX gene mutation. We also provide a systematic review of currently available knowledge about clinical, radiologic and genetic features typical of the OS-CS.
Collapse
Affiliation(s)
- Anna Maria Zicari
- Department of Pediatrics, Policlinico Umberto I, Sapienza University, Rome, Italy.
| | | | | | | | | | | | | | | | | | | |
Collapse
|
|
8
|
Holman SK, Daniel P, Jenkins ZA, Herron RL, Morgan T, Savarirayan R, Chow CW, Bohring A, Mosel A, Lacombe D, Steiner B, Schmitt-Mechelke T, Schroter B, Raas-Rothschild A, Miñaur SG, Porteous M, Parker M, Quarrell O, Tapon D, Cormier-Daire V, Mansour S, Nash R, Bindoff LA, Fiskerstrand T, Robertson SP. The male phenotype in osteopathia striata congenita with cranial sclerosis. Am J Med Genet A 2012; 155A:2397-408. [PMID: 22043478 DOI: 10.1002/ajmg.a.34178] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked disease caused by truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial sclerosis, and craniofacial dysmorphism. Males with OSCS have significant skeletal sclerosis, do not have striations but do display a more severe phenotype commonly associated with gross structural malformations, patterning defects, and significant pre- and postnatal lethality. The recent description of mutations in WTX underlying OSCS has led to the identification of a milder, survivable phenotype in males. Individuals with this presentation can have, in addition to skeletal sclerosis, Hirschsprung disease, joint contractures, cardiomyopathy, and neuromuscular anomalies. A diagnosis of OSCS should be considered in males with macrocephaly, skeletal sclerosis that is most marked in the cranium and the absence of metaphyseal striations. The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage.
Collapse
Affiliation(s)
- Sarah K Holman
- Department of Paediatrics, Dunedin School of Medicine, Otago University, New Zealand
| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
Collapse
|
|
9
|
An unusual case of sciatic neuropraxia due to melorheostosis. Joint Bone Spine 2010; 77:614-5. [PMID: 20594895 DOI: 10.1016/j.jbspin.2010.04.006] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/12/2009] [Accepted: 04/15/2010] [Indexed: 11/22/2022]
Abstract
Melorrheostosis is a rare osteosclerotic bone dysplasia of obscure etiology. The typical radiographic features are flowing candle wax, sub-periosteal bone and streaky endosteal bone formation in diaphyseal and epiphyseal area with sclerotomal pattern mainly involving appendicular skeleton. It is rarely associated with nerve palsies. The authors report a case of melorrheostotic mass causing sciatic neuropraxia and to the best of their knowledge it is the first case reported in the English language literature.
Collapse
|
|
10
|
Koudstaal MJ, Wolvius EB, Ongkosuwito EM, van der Wal KGH. Surgically assisted rapid maxillary expansion in two cases of osteopathia striata with cranial sclerosis. Cleft Palate Craniofac J 2008; 45:337-42. [PMID: 18452358 DOI: 10.1597/07-016] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/27/2022] Open
Abstract
Osteopathia striata with cranial sclerosis (OS-CS) is a rare skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extraskeletal anomalies. Osteosclerosis of the cranial and facial bones can lead to disfigurement and to disability due to the pressure on the cranial nerves. We report two cases of OS-CS where surgically assisted rapid maxillary expansion was performed for widening the extremely narrow maxilla. One should be aware of the disease-related problems and the possible complications that might occur with this type of patient.
Collapse
Affiliation(s)
- M J Koudstaal
- Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands.
| | | | | | | |
Collapse
|
|
11
|
Lüerssen K, Ptok M. Osteopathia striata with cranial sclerosis and hearing loss. Eur Arch Otorhinolaryngol 2005; 263:123-6. [PMID: 16010569 DOI: 10.1007/s00405-005-0972-8] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2004] [Accepted: 03/30/2005] [Indexed: 01/01/2023]
Abstract
Osteopathia striata is a manifestation of several bone dysplasias. In association with cranial sclerosis, it represents a separate entity that is not limited to the bones, but may also affect other structures, leading to an abnormal face, cleft palate, deafness, heart defects and vertebral anomalies. Neurological findings range from normal development to marked retardation with hydrocephalus, cranial nerve deficiencies and deafness. So far, only a few patients have been described in the literature, demonstrating autosomal dominant inheritance. Here, we report a spontaneous mutation of inheritance. The parents and three sisters of the affected child are healthy. In 78.6% of the reported cases with osteopathia striata and hearing loss, a conductive hearing loss was described. Surgical attempts to mobilize the middle-ear bones were unsuccessful because of swelling and augmented growth of the bones in the middle ears. Here the mobilization of the eardrum was not attempted because the middle ear cavities were epidermized. This is the second case in the literature in which a myringotomy was not done because the middle ear was completely epidermized. As a possible alternative, children with osteopathia striata and cranial sclerosis with hearing loss should be fitted with hearing aids because surgery of the middle ear probably will be difficult or perhaps not possible.
Collapse
Affiliation(s)
- K Lüerssen
- Department of Phoniatrics and Pedaudiology, Hanover Medical School, Carl-Neuberg-Str. 1, 30625, Hanover, Germany.
| | | |
Collapse
|
|
12
|
Berenholz L, Lippy W, Harrell M. Conductive hearing loss in osteopathia striata-cranial sclerosis. Otolaryngol Head Neck Surg 2002; 127:124-6. [PMID: 12161743 DOI: 10.1067/mhn.2002.124852] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022]
Affiliation(s)
- Leonard Berenholz
- Department of Otolaryngology, Edith Wolfson Medical Center, Holon, Israel.
| | | | | |
Collapse
|
|
13
|
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. AMERICAN JOURNAL OF MEDICAL GENETICS 2002; 107:1-4. [PMID: 11807859 DOI: 10.1002/ajmg.10028] [Citation(s) in RCA: 34] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two sporadic cases and three families, with an excess of affected females (9F/1M). Phenotypic variability was observed in our patients as well as several unusual findings. Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X-inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non-random X-inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance.
Collapse
Affiliation(s)
- Géraldine Viot
- Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France.
| | | | | | | | | | | | | | | | | | | | | |
Collapse
|
|
14
|
Abstract
Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation. We will review the clinical and radiologic findings in a new patient from birth to 20 years; this is believed to be the thirty-fifth patient reported. OS-CS is 2.5 times more common in females and occurs as an autosomal dominant condition or a sporadic dominant mutation with patients presenting for evaluation from the newborn period to the fifth decade. Skeletal abnormalities are distinctive including sclerosis of the skull base and calvarium, linear striated densities in the long bones and pelvis, and poor development of the mastoid and sinus air cells. Radionuclide bone scans with SPECT indicated in our patient increased bone turnover which was supported by biochemical findings of increased pyridinoline excretion. The major complications are due to constriction of essential foramina at the skull base. The condition is not life-threatening but can produce disability.
Collapse
Affiliation(s)
- B B Gay
- Department of Radiology, Emory University School of Medicine, Atlanta, Georgia
| | | | | | | |
Collapse
|
|
15
|
Nakamura K, Nakada Y, Nakada D. Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility. ACTA ACUST UNITED AC 1998. [DOI: 10.1002/(sici)1096-8628(19980413)76:5<389::aid-ajmg5>3.0.co;2-i] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
|
|
16
|
Pellegrino JE, McDonald-McGinn DM, Schneider A, Markowitz RI, Zackai EH. Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder? ACTA ACUST UNITED AC 1997. [DOI: 10.1002/(sici)1096-8628(19970516)70:2<159::aid-ajmg11>3.0.co;2-i] [Citation(s) in RCA: 25] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
|
|
17
|
Bar-Oz B, Mogle P, Ben-Neriah Z, Sheffer R, Arad I. Duodenal web in the syndrome of osteopathia striata with cranial sclerosis. Clin Genet 1996; 49:329-30. [PMID: 8884088 DOI: 10.1111/j.1399-0004.1996.tb03802.x] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]
|
|
18
|
König R, Dukiet C, Dörries A, Zabel B, Fuchs S. Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. AMERICAN JOURNAL OF MEDICAL GENETICS 1996; 63:68-73. [PMID: 8723089 DOI: 10.1002/(sici)1096-8628(19960503)63:1<68::aid-ajmg14>3.0.co;2-s] [Citation(s) in RCA: 26] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
Abstract
Osteopathia striata is a manifestation of several bone dysplasias. In association with cranial sclerosis it represents a separate entity, which is not limited to the bones but may affect other structures, leading to abnormal face, cleft palate, deafness, heart defects, and vertebral anomalies. Neurological findings range from normal development to marked retardation with hydrocephalus, cranial nerve deficiencies and deafness. Ten families, including our own, clearly demonstrate autosomal dominant inheritance with female preponderance and great inter- and intrafamilial variability.
Collapse
Affiliation(s)
- R König
- Institute of Human Genetics Frankfurt, Germany
| | | | | | | | | |
Collapse
|
|
19
|
Daley TD, Wysocki GP, Bohay RN. Osteopathia striata, short stature, cataracts, and microdontia: a new syndrome? A case report. ORAL SURGERY, ORAL MEDICINE, ORAL PATHOLOGY, ORAL RADIOLOGY, AND ENDODONTICS 1996; 81:356-60. [PMID: 8653471 DOI: 10.1016/s1079-2104(96)80337-4] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
Abstract
A case of osteopathia striata, childhood cataracts, short stature, elbow deformity, and microdontia with rhizomicry in a white male is reported. The report includes a detailed analysis of dental changes. The relationship of this syndrome to other similar conditions including osteopathia striata with cranial base sclerosis and Rothmund-Thomson syndrome are discussed.
Collapse
Affiliation(s)
- T D Daley
- Department of Pathology, Faculty of Dentistry, University of Western Ontario, London, Canada
| | | | | |
Collapse
|
|
20
|
Abstract
Osteopathia striata is an unusual skeletal condition that can affect the bones of the skull quite markedly and result in dental problems that have rarely been discussed in the literature. The characteristic features exhibited by the patient in this case report were dense maxillary and mandibular bone, a high forehead with frontal bossing, a broad nasal bridge, prominent zygomatic arches and thickened angles of the mandible. The mouth opening was limited as a result of sclerosis of the mastoid process, and right lateral excursion of the mandible was reduced, probably because of a deformity of the left condyle.
Collapse
Affiliation(s)
- J R Goodman
- Department of Children's Dentistry, Eastman Dental Hospital, London
| | | |
Collapse
|
|
21
|
Clementi M, Bellato S, Rossetti A, Mammi I, Tenconi R. Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? AMERICAN JOURNAL OF MEDICAL GENETICS 1993; 46:724-6. [PMID: 8362918 DOI: 10.1002/ajmg.1320460626] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/30/2023]
Abstract
A girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina.
Collapse
Affiliation(s)
- M Clementi
- Dipartimento di Pediatria, Università di Padova, Italy
| | | | | | | | | |
Collapse
|