[Atypical course in Stickler syndrome].
We report about a 12-year-old boy with a Stickler syndrome. Because of osteonecrosis in the femoral head in MRI the initial diagnosis was dysplasia epiphysealis capitis femoris. The patient developed a progressive stiffness of the hip and a retinal detachment. A molecular investigation showed a Stickler syndrome. Stickler syndrome is an autosomal dominant hereditary disease. It has a very low incidence and a rare association with hip disease. Usually the patients suffer from hypermobility. In our case the course was atypical and diagnosis delayed.
Koehler
J-B
JB
Orthopädische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Klinikum Grosshadern, München. jana-beate.koehler@med.uni-muenchen.de
Koehler
S
S
Heimkes
B
B
Jansson
V
V
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D010020:Osteonecrosis / Q000175:diagnosis* / Q000235:genetics*