Oto-Palato-Digital syndrome in four generations of a large family.
A new large family, affected by O-P-D syndrome is reported. Nine members in four consecutive generations have been studied. Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal. Transmission pattern may be X-linked with intermediate expression in the female or autosomal dominant with sex limitation of expression.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010159:Palate / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014960:X Chromosome