Stickler syndrome. Report of a second Australian family.
Three cases of Stickler Syndrome (hereditary progressive arthro-ophthalmopathy) in a family are described. This disease is caused by a dominant gene with incomplete penetrance, and shows variability in its symptomatology and clinical and radiographic findings among members of the same families. The radiographic appearances, although seldom diagnostic, are often suggestive of the disease or supportive in doubtful cases.
D001315:Australia; D005128:Eye Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013577:Syndrome