[Hereditary progressive arthro-ophthalmopathy (Stickler syndrome)].
The hereditary arthro-ophthalmopathy (Stickler-Syndrome) is a relatively frequent dominantly inherited disorder of connective tissue. The main symptom is strong congenital myopia, which develops often to blindness. On the other hand there is a dysplasia of the meta- and diaphysis of the tubular bones, which varies in form and expression. Within difficulties with differential diagnosis to near syndromes it is important to get a clear diagnosis by ophthalmologic, radiologic and family investigations. Within three members of a family the orthopaedic symptomatology is shown. In case of Stickler-Syndrome surgery in the skeleton system should be prevented.
Bernd
L
L
Stiftung Orthopädische Universitätsklinik Heidelberg.
Niethard
F U
FU
Schiltenwolf
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001766:Blindness / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
Die erblich fortschreitende Arthro-Ophthalmopathie (Stickler-Syndrom).