title: A case definition and photographic screening tool for the facial phenotype of fetal alcohol syndrome.
abstract: OBJECTIVE
  The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surveillance tools.
  
  
  METHODS
  Frontal facial photographs of 42 subjects (from birth to 27 years of age) with FAS were matched to 84 subjects without FAS. The study population was randomly divided in half. Group 1 was used to identify the facial features that best differentiated individuals with and without FAS. Group 2 was used for cross validation.
  
  
  RESULTS
  In group 1, stepwise discriminant analysis identified three facial features (reduced palpebral fissure length/inner canthal distance ratio, smooth philtrum, and thin upper lip) as the cluster of features that differentiated individuals with and without FAS in groups 1 and 2 with 100% accuracy. Sensitivity and specificity were unaffected by race, gender, and age.
  
  
  CONCLUSIONS
  The phenotypic case definition derived from photographs accurately distinguished between individuals with and without FAS, demonstrating the potential of this approach for developing screening, diagnostic, and surveillance tools. Further evaluation of the validity and generalizability of this method will be needed.
authors: Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, Seattle, USA.
authors: S J
authors: SJ
authors: Astley
authors: S K
authors: SK
authors: Clarren
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016002:Discriminant Analysis; D019066:Facies; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008046:Lip / Q000473:pathology; D008297:Male; D010641:Phenotype; D010781:Photography; D012680:Sensitivity and Specificity