A Mutation in COL9A2 Causes Multiple Epiphyseal Dysplasia (EDM2)
✍ Scribed by Yasuteru Muragaki; Edwin C. M. Mariman; Sylvia E. C. Van Beersum; Merja PerÄLÄ; Jan B. A. Van Mourik; Matthew L. Warman; Ben C. J. Hamel; Bjorn R. Olsen
- Book ID
- 119873814
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 401 KB
- Volume
- 785
- Category
- Article
- ISSN
- 0890-6564
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## Abstract Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset of osteoarthritis (OA) mainly in the hip and knee joints, and abnormally small and/or irregular epiphyses. MED is clinically and genetically heterogeneous. Six
We describe a large family, including 54 affected individuals, with multiple epiphyseal dysplasia (MED) with involvement of the peripheral joints only. In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints. Other involved joints are the
We report on a three-generation family with multiple epiphyseal dysplasia (MED). The propositus had typical MED findings of knees, ankles, elbows, and hands in childhood. The 2 other affected relatives were adults. The main clinical findings consisted of osteochondritis dissecans and osteoarthritis