Facial Dysmorphism Across the Fetal Alcohol Spectrum
OBJECTIVE: Classic facial characteristics of fetal alcohol syndrome (FAS) are shortened palpebral fissures, smooth philtrum, and thin upper vermillion. We aim to help pediatricians detect facial dysmorphism across the fetal alcohol spectrum, especially among nonsyndromal heavily exposed (HE) individuals without classic facial characteristics.
METHODS: Of 192 Cape Coloured children recruited, 69 were born to women who reported abstaining from alcohol during pregnancy. According to multifaceted criteria, the remainder were allocated clinically to the FAS (n = 22), partial FAS (n = 26) or nonsyndromal HE (n = 75) categories. We used dense surface modeling and signature analyses of 3-dimensional facial photographs to determine agreement between clinical categorization and classifications induced from face shape alone, to visualize facial differences, and to consider predictive links between face shape and neurobehavior.
RESULTS: Face classification achieved significant agreement with clinical categories for discrimination of nonexposed from FAS alone (face: 0.97–1.00; profile: 0.92) or with the addition of partial FAS (face: 0.90; profile: 0.92). Visualizations of face signatures delineated dysmorphism across the fetal alcohol spectrum and in half of the nonsyndromal HE category face signature graphs detected facial characteristics consistent with prenatal alcohol exposure. This subgroup performed less well on IQ and learning tests than did nonsyndromal subjects without classic facial characteristics.
CONCLUSIONS: Heat maps and morphing visualizations of face signatures may help clinicians detect facial dysmorphism across the fetal alcohol spectrum. Face signature graphs show potential for identifying nonsyndromal heavily exposed children who lack the classic facial phenotype but have cognitive impairment.
- facial dysmorphism
- fetal alcohol spectrum disorders
- fetal alcohol syndrome
- dense surface modeling
- signature graphs
- prenatal alcohol exposure
- alcohol-related neurodevelopmental disorder
- CVLT-C—California Verbal Learning Test —
- Children’s Version
- 3D —
- DSM —
- dense surface model
- FAS —
- fetal alcohol syndrome
- FASD —
- fetal alcohol spectrum disorder
- HC —
- healthy control
- HE —
- nonsyndromal heavy alcohol exposure
- HE1 —
- nonsyndromal heavy exposed with FAS/PFAS-like face signature
- HE2 —
- nonsyndromal heavy exposed with more control-like face signature
- PFAS —
- partial fetal alcohol syndrome
- ROC —
- receiver operating characteristic
- UCT —
- University of Cape Town
- WISC IV —
- Fourth edition of Wechsler Intelligence Scale for Children
- Accepted November 19, 2012.
- Copyright © 2013 by the American Academy of Pediatrics