[Polyarthritic manifestations revealing Stickler syndrome].
Stickler syndrome, also called hereditary arthro-ophthalmopathy is a dominant disorder, with poly-epiphyseal dysplasia resulting in early osteoarthritis. It usually includes bilateral myopia, that changes little during the follow up period, but can lead to retinal detachment. Children with Stickler syndrome can show facial dysmorphism that may improve with age, but severe anomalies may exist such as Pierre Robin sequence. Our case, a woman, 20-year-old, presents chronic polyarthritis which is an unusual feature of this disease. The diagnosis of Stickler's syndrome is based on polyepiphyseal dysplasia in skeletal radiography and bilateral myopia. Otherwise, this patient has no facial dysmorphism.
Hakim
H
H
Service de Rhumatologie, CHU Hédi Chaker, Sfax, Tunisie.
Elloumi
M
M
Ben Salem
M
M
Karray
S
S
Baklouti
S
S
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002908:Chronic Disease; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009216:Myopia / Q000175:diagnosis* / Q000235:genetics; D009887:Ophthalmoscopy; D010003:Osteoarthritis / Q000000981:diagnostic imaging* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D013577:Syndrome