期刊
SKELETAL RADIOLOGY
卷 31, 期 12, 页码 730-737出版社
SPRINGER
DOI: 10.1007/s00256-002-0553-5
关键词
familial osteoarthropathy; precocious osteoarthropathy; multiple epiphyseal dysplasia; cartilage oligomeric matrix protein gene; autosomal dominant trait; radiographs
We report on a Japanese family. of four generations with an autosomal dominant precocious osteoarthropathy. The cardinal clinical manifestations of affected individuals were painful weight-bearing large joints, which started in late childhood or adolescence. The radiological hallmarks included coxa plana, mild epiphyseal dysplasia of the knee, and round talar domes with tibiotalar slant in childhood, which evolved into degenerative joint diseases in adulthood. The disease phenotype was cosegregated with a mutation of the cartilage oligomeric matrix protein (COMP) gene in the family members, who underwent molecular evaluation. COMP mutations have been reported in a mild form of multiple epiphyseal dysplasia (MED), Ribbing type, as well as allied disorders with more severe manifestations, such as MED Fair-bank type and pseudoachondroplasia. Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or brachydactyly. This report expands further the phenotypic variations of COMP defects.
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