Objectives: The purpose was to demonstrate that an objective, multivariate case definition of fetal alcohol syndrome (FAS) and partial fetal alcohol syndrome (PFAS) can be derived by means of craniofacial anthropometry.
Study design: Craniofacial measurements (n = 21) were taken of 100 individuals who had been exposed to alcohol before birth (41 FAS, 59 PFAS) and 31 members of a control group. Multivariate discriminant analysis was used to identify craniofacial measurements that best differentiated the 3 groups (FAS, PFAS, and control).
Results: Both the FAS and PFAS groups had a unique craniofacial phenotype that could be accurately discriminated from that of the control group. Stepwise discriminant analysis identified 6 craniofacial measurements that could differentiate individuals with and without prenatal alcohol exposure with 96% accuracy, 98% sensitivity, and 90% specificity.
Conclusions: Individuals with FAS and PFAS have a distinctive facial phenotype that can be characterized anthropometrically. The phenotypic case definition could be used as a screening tool to identify individuals prenatally exposed to alcohol who do not exhibit a "classic" FAS phenotype but exhibit a more subtle craniofacial dysmorphia.