Morphometric analysis and classification of the facial phenotype associated with fetal alcohol syndrome in 5‐ and 12‐year‐old children

Abstract

Landmark-based morphometric analysis holds promise for quantitative assessment of craniofacial dysmorphology. We describe an application of facial shape analysis to characterize the facial anomalies associated with fetal alcohol syndrome (FAS) in a mixed ancestry population. Generalized Procrustes analysis, regression and discriminant function analysis were applied to stereo-photogrammetrically derived 3D coordinates of landmarks taken from 34 subjects (n = 17 FAS and n = 17 normal controls). Four shape analyses were carried out, namely a comparison of the FAS and control facial shapes at age 5, and one at age 12; a comparison of the FAS facial shapes at ages 5 and 12; and a comparison of control facial shapes at ages 5 and 12. The first two analyses showed that the FAS face is characterized by small palpebral fissures, a thin upper lip, and midfacial hypoplasia. Classification of subjects as having FAS using leave-one-out cross-validation showed that the 5-year-old group could be classified with 95.46% accuracy and the 12-year-olds with 80.13% accuracy. The third and fourth analyses revealed that the differences in facial shape between FAS individuals in different age groups were more pronounced than for control individuals, supporting the notion that FAS facial anomalies diminish with age. Geometric morphometric analysis of stereo-photogrammetrically derived 3D facial landmarks allows visualization of the facial anomalies associated with FAS, as well as classification of facial shapes.

Morphometry of the Orbital Region Soft Tissues in Down Syndrome

“…16,17 Development of the structures of the upper facial third is strictly related to forebrain development, and alterations in orbital characteristics may derive from cerebral malformations in the embryonic and fetal period. 1,22 In the current study, the faces of 2 groups of subjects with DS (Italian white and North Sudanese) were imaged in 3 dimensions using computerized instruments, and the morphologic features of their orbital soft tissues were quantitatively analyzed using indirect, computerized anthropometry. Data were compared with values collected in normal, healthy individuals of the same age, sex, and ethnicity.…”

“…Subsequently, to detect age-related differences in the discrepancies of the DS subjects from the controls, 1 linear regression analyses were performed between age and the z scores, separately for men and women and for the ethnic groups.…”

An innocent victim (fetal alcohol syndrome)

“…These facial abnormalies that are recognizable at birth tend to be less apparent with growth 21 . Therefore, a digitized Procrustean analysis of the facial points, performed using a 3D 22 , allowed practitioners to detect children with FAS from a control population in more than 95% of cases by age 5, whereas the number lowered to 80% by age 12.…”

“…2): agenesis of a permanent mandibular incisor, presumably 32, taurodontism of the first molars, short and narrow appearance of the anterior roots, some of which present an image of crown-root kinking (21,41,42), and no visible image of the toothbuds of the third molars.…”

Soft-tissue 3D Facial Imaging in Children and Adolescents: Towards the Definition of New Reference Standards

“…Examples include the evaluation and treatment planning of children with occlusal abnormalities [8,9], orofacial clefts [10], or cranial deformities [11], as well as the early diagnosis of congenital and genetic disorders (Down's syndrome, ectodermal dysplasia, Glut1 deficiency syndrome, Moebius syndrome, velocardiofacial syndrome) or acquired pathologies like fetal alcohol syndrome that modify facial phenotype [12][13][14][15][16][17][18].…”