Cerebral abnormalities in the oral-facial-digital syndrome

This is a report of three cases of the oral-facial-digital (OFD) syndrome with accompanying severe cerebral abnormalities. Among 150 reported cases of this syndrome, 16 had accompanying documented cerebral anomalies including porencephalic cysts, agenesis of the corpus callosum, and cortical hypoplasia. Although mental retardation is a prominent feature of this syndrome, neuroradiologic workup is infrequent. In view of the frequency of associated cerebral abnormalities (13%) of OFD syndrome, neuroradiologic evaluation is valuable as a guide to prognosis and therapy for these children.