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
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population
β Scribed by Taichi Itoh; Shuya Shirahama; Eiji Nakashima; Koichi Maeda; Nobuhiko Haga; Hiroshi Kitoh; Rika Kosaki; Hirofumi Ohashi; Gen Nishimura; Shiro Ikegawa
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 90 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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## Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are allelic disorders caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP) . PSACH is a dominant condition characterized by disproportionate short stature, joint laxity, and early-onset osteoart
Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by joint pain and stiffness, delayed and irregular ossification of epiphyses, and early-onset osteoarthritis. Six genes responsible for MED have been identified, including COMP, COL9A1, COL9A2, COL9A3, DSTDT and MATN3.
Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood. Mutations in the matrilin-3 gene (MATN3)