OCULODENTODIGITAL DYSPLASIA WITH CEREBRAL WHITE-MATTER ABNORMALITIES IN A 2-GENERATION FAMILY

Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder i nvolving eye and face abnormalities, syndactyly, and enamel hypoplasia . Some individuals with ODDD also have spastic paraparesis. Previously , we reported on a woman with sporadic ODDD and progressive neurologic dysfunction who had cerebral white matter abnormalities demonstrated by magnetic resonance imaging (MRI). We now describe a a-generation fa mily with ODDD and progressive paraparesis associated with leukodystro phic changes documented by MRI. This family represents one of the larg est pedigrees with ODDD described so far. The presence of abnormal whi te matter changes in both sporadic and inherited forms of ODDD suggest s that the phenotype of ODDD should be expanded to include spastic par aparesis. (C) 1995 Wiley-Liss, Inc.