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 Stic...

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Veröffentlicht in:Zeitschrift für Orthopädie und Unfallchirurgie 2007-07, Vol.145 (4), p.511-513
Hauptverfasser: Koehler, J-B, Koehler, S, Heimkes, B, Jansson, V
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Sprache:eng ; ger
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Zusammenfassung: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.
ISSN:1864-6697
DOI:10.1055/s-2007-965227