Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli.
Hereditary Arthro-ophthalmopathy (The Stickler Syndrome) is a relatively common dominantly inherited disorder of connective tissue. A wide range of musculoskeletal involvement occurs including marfanoid habitus, kyphosis, scoliosis, slipped epiphyses, joint laxity and degenerative arthritis. Congenital myopia and micrognathia are the most characteristic non-skeletal features. An affected family is reported who also exhibit protrusio acetabuli. It is important to recognize this syndrome for both diagnostic and therapeutic purposes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000077:Acetabulum / Q000002:abnormalities*; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008844:Micrognathism / Q000150:complications; D008875:Middle Aged; D009216:Myopia / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D012163:Retinal Detachment / Q000150:complications* / Q000235:genetics; D013577:Syndrome