The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).
Hereditary arthroophthalmopathy (Stickler syndrome) is an autosomal dominant syndrome characterized by musculoskeletal, ophthalmic and dysmorphic facial features. A family is described illustrating diverse expressions of Stickler syndrome, including abnormalities not directly attributable to mutation of the type II procollagen gene. A review of the literature demonstrates a range of articular problems, several of which are not specific to Stickler syndrome, and might be encountered in either adult or pediatric rheumatology practice. Stickler syndrome may be underrecognized by rheumatologists, particularly if the significance of nonarticular clinical features or a positive family history are not appreciated.
Lewkonia
R M
RM
Department of Medicine, University of Calgary, AB, Canada.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D005128:Eye Diseases / Q000235:genetics* / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D009140:Musculoskeletal Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011347:Procollagen / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D011347:Procollagen