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Published on: November 21, 2013
[Atypical course in Stickler syndrome]
J-B Koehler1, S Koehler, B Heimkes
1Orthopädische Klinik und Poliklinik, Ludwig-Maximilians-Universität München, Klinikum Grosshadern, München. jana-beate.koehler@med.uni-muenchen.de
Abstract:
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.
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