Diagnosis of the Fetal Alcohol Spectrum Disorder (FASD) is dependent on the identification of a pattern of malformation including alterations in growth and neurobehavioral development as well as a constellation of specific minor craniofacial anomalies. In that a neurobehavioral phenotype specific for prenatal alcohol exposure has not yet been identified, it is presently not possible to diagnose FASD in the absence of the clinical phenotype. It will be the responsibility of the Dysmorphology Core to assure accurate and consistent diagnosis of FASD in children at all consortium sites through implementation of a standard protocol based on documentation of the clinical phenotype which will be used at all sites. In that this consortium will integrate investigators from different sites throughout the world, it is imperative to have a small core of individuals with extensive experience in evaluation of children prenatally exposed to alcohol responsible for diagnosis of FASD at all sites. Identification of large numbers of children with FASD at various ages, each of whom has received a standardized clinical evaluation will provide the opportunity to gain new insight into a variety of issues relating to the clinical phenotype including the full range of structural defects in the disorder, physical features that are predictive of alterations in neurobehavioral development, the extent to which degrees of growth deficiency should be used to enhance specificity of diagnosis without loss of sensitivity, and will provide the opportunity to develop strategies to diagnose this disorder in the newborn period.
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