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Multiple epiphyseal dysplasia – report of two families

✍ Scribed by M. Hatori; Sobei Watanabe; Shoichi Kokubun

Publisher
Springer
Year
2000
Tongue
English
Weight
271 KB
Volume
120
Category
Article
ISSN
1434-3916

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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

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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