Congenital macular colobomas and short-limb skeletal dysplasia.
We report a previously undescribed association of severe short-limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia. Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002356:Cartilage / Q000648:ultrastructure; D003103:Coloboma / Q000235:genetics*; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D008854:Microscopy, Electron; D011859:Radiography; D013577:Syndrome