Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers.
The first two cases, reported in Australia of Oto-Palato-Digital syndrome, in two half brothers and described. They show the most severe X-ray changes ever reported in this syndrome, and were already full-blown in one of the brothers who was radiographed at the age of 1 day. These two cases also broaden our clinical and radiographic spectrum of the disease.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics*; D003638:Deafness / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011859:Radiography; D013577:Syndrome