Children with cleft lip ± palate (CL/P) may undergo nasoalveolar molding (NAM) before surgery to achieve arch alignment and tension-free closure, yet the endpoint of arch dimensions has not been defined.

To characterize the size and shape of infant palates using anatomic landmarks on magnetic resonance imaging in infants without CL/P.

Magnetic resonance imaging of infants without cleft palate younger than 3 months were reviewed and 13 measurements were taken to define palatal shape: distance between incisive foramen (IF) and incisors (IN), IF and middle of canines (MOC), between MOCs, between first molars (FM), 2 depth and 4 angle measurements.

Ninety-two infants between 30 and 44 weeks old were included. Pre-maxillary growth from 30 to 44 weeks demonstrated the slowest growth (0.06 cm) from IF to between IN (B) and the greatest growth (0.7 cm) between the width of FM (K). The measurements between MOC (J) and between FMs (K) had the highest positive correlation to age at 0.55 and 0.61, respectively.

There was predictable growth of the palate noted between 30 and 44 weeks, with the most predictive measurements represented by the width of the canines and first molar locations along the alveolus. These values can help guide pre-surgical orthopedics in infants with CL/P.

The face is a small complex three-dimensional (3D) structure composed of various bones and essential organs. Congenital anomalies of those organs represent various deformities; therefore, their quantification has been challenging. Linear measurements, such as lengths or angles between landmarks, called conventional morphometrics, have been used to quantify their phenotypes usually using 2D images, such as photographs or X-ray images. During analysis, geometric information, which refers to the relative position of each structure, is lost. Geometric morphometrics (GM) uses shape configurations, including anatomical landmarks, which can retain geometric information throughout analysis and can help visualize the results, making it tremendously advantageous compared to conventional methods. Morphometric studies investigate variations within groups, identification of group differences, simulation of the ontogeny, or association with specific organs or genetic disorders, and GM can be applied to these purposes using multivariate statistical methods. The calculation of high-dimensional data is usually required and has prevented GM from becoming a major morphometric method. However, recent developments in computer technology and software have enabled us to perform it easily with ordinary home computers, and the number of morphometric studies applying GM for facial congenital anomalies has been increasing recently. In this article, we introduce the concept and application of GM and review previous morphometric studies with GM regarding congenital facial anomalies.

Fetal alcohol spectrum disorder (FASD) is a major problem worldwide and dysmorphic facial features may be a prenatal biomarker for FASD. Deviations from normal facial development cannot be explored before establishing the normal variation in a specific population, since ethnic differences may exist.Objectives: Main objective: to establish reference standards for 23 facial measurements on 3D ultrasound volumes obtained between days 196 and 224 of gestation in healthy unexposed South African fetuses from an area with historically high alcohol consumption prevalence and a population group with no existing normative values. Secondary objective: to assess the confounding effect of maternal and fetal characteristics.Design: This study involves 97 women (including 43 smokers) who had been enrolled in the Safe Passage Study (SPS), a large prospective multinational cohort study assessing the effects of prenatal alcohol exposure. They had adequate 3 D ultrasound volumes of the fetal face acquired at 28⁺⁰-31⁺⁶weeks in singleton pregnancies without comorbidities, congenital abnormalities or exposure to alcohol, marijuana, or methamphetamines from 4 weeks before conception.Participants, materials, setting, methods: The participants were recruited from two residential areas of low socioeconomic status in Cape Town. Meticulous information was collected on maternal and pregnancy characteristics, including alcohol use at different time points. Gestational age (GA) was based on ultrasound biometry before 24 weeks, and 3D ultrasound volumes were acquired trans-abdominally from a sagittal and axial plane of the fetal face. Volumes were independently assessed offline by two observers and the image with the best landmark definition was used for 23 facial measurements, representing features previously described in children with FASD. The relation to the exact GA was assessed by regression analysis, the expected mean value and standard error of the estimate (SEE) was determined to transform all raw measurements into z-scores, and the effect of possible confounders on z-scores was assessed by ANOVA.Results: Ten variables changed significantly with advancing GA (extraocular diameter, anteroposterior, medio-lateral and supero-inferior ocular diameter, ocular volume, interlens distance, prenasal thickness, nasal bone length, nose length and nose protrusion) and thirteen did not (interocular distance; interocular: extraocular diameter ratio, prenasal thickness: nasal bone length ratio, pronasal-subnasal distance, subnasal-mouth distance, philtrum length, upper vermillion thickness, nose-philtrum angle, maxillary angle, facial height, facial protrusion, frontomaxillary facial angle and maxilla-nasion-mandible angle). Reference values (expected mean and SEE) for the 23 measurements were established for each day.The z-scores of all facial measurements were not independently affected by maternal age, parity, gravidity, smoking or body mass index, but infant sex and birthweight z-score significantly influenced several z-scores (infant sex for extraocular, medio-lateral, and supero-inferior ocular diameter, ocular volume, prenasal thickness and nose protrusion; birthweight z-score for extraocular diameter, interocular and interlens distance, nose protrusion and maxillary angle).Limitations: GA was not always confirmed by first trimester ultrasound and some measurements could not be obtained in all cases due to suboptimal image quality. The cohort included few heavy smokers so an effect of heavy or continued smoking cannot be ruled out, and the effect of ethnicity was not assessed.Conclusions: These are the first local reference standards for fetal facial measurements and, to our knowledge, the first reference standards for the supero-inferior ocular diameter, face protrusion, upper vermillion thickness, maxillary angle, and nose-philtrum angle. They were broadly in keeping with published references, with small discrepancies explained by minor differences in technique. Even in this narrow GA window, the distribution of many variables changed over time and normal variation was significantly influenced by fetal sex and birthweight z-score. The possible confounding effect of these factors needs to be considered when assessing the impact of harmful exposures like alcohol on facial development.

The cranial base is a multifunctional bony platform within the core of the cranium, spanning rostral to caudal ends. This structure provides support for the brain and skull vault above, serves as a link between the head and the vertebral column below, and seamlessly integrates with the facial skeleton at its rostral end. Unique from the majority of the cranial skeleton, the cranial base develops from a cartilage intermediate-the chondrocranium-through the process of endochondral ossification. Owing to the intimate association of the cranial base with nearly all aspects of the head, congenital birth defects impacting these structures often coincide with anomalies of the cranial base. Despite this critical importance, studies investigating the genetic control of cranial base development and associated disorders lags in comparison to other craniofacial structures. Here, we highlight and review developmental and genetic aspects of the cranial base, including its transition from cartilage to bone, dual embryological origins, and vignettes of transcription factors controlling its formation.

Congenital midfacial hypoplasia often requires intensive treatments and is a typical condition for the Binder phenotype and syndromic craniosynostosis. The growth trait of the midfacial skeleton during the early fetal period has been assumed to be critical for such an anomaly. However, previous embryological studies using 2-dimensional analyses and specimens during the late fetal period have not been sufficient to reveal it.

To understand the morphogenesis of the midfacial skeleton in the early fetal period via 3-dimensional quantification of the growth trait and investigation of the developmental association between the growth centers and midface.

Magnetic resonance images were obtained from 60 human fetuses during the early fetal period. Three-dimensional shape changes in the craniofacial skeleton along growth were quantified and visualized using geometric morphometrics. Subsequently, the degree of development was computed. Furthermore, the developmental association between the growth centers and the midfacial skeleton was statistically investigated and visualized.

The zygoma expanded drastically in the anterolateral dimension, and the lateral part of the maxilla developed forward until approximately 13 weeks of gestation. The growth centers such as the nasal septum and anterior portion of the sphenoid were highly associated with the forward growth of the midfacial skeleton (RV = 0.589; P < .001).

The development of the midface, especially of the zygoma, before 13 weeks of gestation played an essential role in the midfacial development. Moreover, the growth centers had a strong association with midfacial forward growth before birth.

The development of skeletal structures (cranial base, upper and lower) and upper airways spaces (oropharyngeal and nasopharyngeal) of the skull has always been an issue of great interest in orthodontics. Foetal MRI images obtained as screening exam during pregnancy can help to understand the development of these structures using a sample cephalometric analysis.

A total of 28 MRI images in sagittal section of foetuses from 20th to 32th weeks of gestation were obtained to dispel doubts about the presence of skeletal malformations. Cephalometric measurements were performed on MRI T2-dependent images acquired with a 1.5 T scanner. The Software Osirix 5 permits to study sagittal and vertical dimensions of the skull analysing linear measurements, angles and areas of the skeletal structures.

Vertical and sagittal dimension of cranial base, maxilla and mandible grow significantly (P < .01) between the second and third trimester of gestational period as well as nasopharyngeal and oropharyngeal spaces (P < .05). High correlation between the development of anterior cranial base and functional areas devoted to speech and swallow is demonstrated (r: .97).

The development of craniofacial structures during foetal period seems to show a close correlation between skeletal features and functional spaces with a peak between the second and third trimester of gestation. MRI images result helpful for the clinician to detect with a sample cephalometric analysis anomalies of skeletal and functional structures during prenatal period.