[Oto-palato-digital type II syndrome].
A new case of the recently described oto-palato-digital type II is reported. The authors insist on the characteristic anomalies, the facial dysmorphism, the overlapping and deviation of the digits, the proximal implantation and hypoplasia of the big toe, and the deafness. Radiologically, the massive appearance of the bones, their incurvation, their defective modeling are characteristic of the syndrome. Life expectancy is often reduced. X-linked inheritance with minor stigmata in the heterozygous females is well established.
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D003638:Deafness / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008017:Life Expectancy; D008297:Male; D010159:Palate / Q000002:abnormalities; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
Syndrome oto-palato-digital de type II.