Atypical course in Stickler syndrome

被引：0
|
作者：
Koehler, J. B. [1 ]
Koehler, S. [1 ]
Heimkes, B. [1 ]
Jansson, V. [1 ]
机构：
[1] Univ Munich, Klinikum Grosshadern, Orthopad Klin & Poliklin, D-81377 Munich, Germany
来源：
ZEITSCHRIFT FUR ORTHOPADIE UND UNFALLCHIRURGIE | 2007年 / 145卷 / 04期
关键词：
stickler syndrome; hereditary progressive arthro-ophthalmopathy; osteonecrosis;
D O I：
10.1055/s-2007-965227
中图分类号：
R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];
学科分类号：
摘要：
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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页码：511 / 513
页数：3
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