Neuropathology of oral-facial-digital syndromes.
A 3-month-old female infant with oral-facial-digital syndrome (OFD-I) was found to have extensive malformations of the brain and spinal cord. Our review of other case reports indicated that the most common central nervous system malformations found in OFD-I include cerebral epithelial (ependymal) cysts, agenesis of the corpus callosum, cerebral micropolygyria, and hypoplasia or dysplasia of the cerebellum, pons, and medulla. It is suggested that the individuals with OFD-I syndrome should be carefully studied clinically and pathologically for complex nervous system anomalies.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology; D002493:Central Nervous System Diseases / Q000473:pathology*; D003560:Cysts / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D009958:Orofaciodigital Syndromes / Q000473:pathology*; D013116:Spinal Cord / Q000002:abnormalities / Q000473:pathology