Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.
We report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward-slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae. The clinical and radiographic changes are similar to those seen in the recently proposed oto-palato-digital syndrome, type II [Fitch et al, 1983]. The disorder is X-linked with heterozygous females being more mildly affected.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005360:Fibula / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014960:X Chromosome