A CASE-DEFINITION AND PHOTOGRAPHIC SCREENING TOOL FOR THE FACIAL PHENOTYPE OF FETAL ALCOHOL SYNDROME

Objectives: The purpose of this study was to demonstrate that a quanti tative, multivariate case definition of the fetal alcohol syndrome (FA S) facial phenotype could be derived from photographs of individuals w ith FAS and to demonstrate how this case definition and photographic a pproach could be used to develop efficient, accurate, and precise scre ening tools, diagnostic aids, and possibly surveillance tools. Study d esign: Frontal facial photographs of 42 subjects (from birth to 27 yea rs 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 wit hout FAS. Group 2 was used for cross validation. Results: In group 1, stepwise discriminant analysis identified three facial features (reduc ed palpebral fissure length/inner canthal distance ratio, smooth philt rum, and thin upper lip) as the cluster of features that differentiate d individuals with and without FAS in groups 1 and 2 with 100% accurac y. Sensitivity and specificity were unaffected by race, gender, and ag e. Conclusions: The phenotypic case definition derived from photograph s accurately distinguished between individuals with and without FAS, d emonstrating 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.