Czarny-Ratajczak et al. (2001) reported a family with multiple epiphyseal dysplasia. The 30-year-old proband had knee pains and difficulty walking since 10 years of age. Radiographs showed early osteoarthritis of one knee, Schmorl's nodes, endplate irregularities, anterior osteophytes ... Czarny-Ratajczak et al. (2001) reported a family with multiple epiphyseal dysplasia. The 30-year-old proband had knee pains and difficulty walking since 10 years of age. Radiographs showed early osteoarthritis of one knee, Schmorl's nodes, endplate irregularities, anterior osteophytes in the thoracolumbar vertebrae, and normal hips. Radiographs of the proband's affected mother, whose symptoms did not begin until age 45 years, showed widespread and severe osteoarthritis in all joints.
In a proband with multiple epiphyseal dysplasia, Czarny-Ratajczak et al. (2001) identified a heterozygous mutation in the COL9A1 gene (120210.0001). His affected mother had the same mutation, which was not found in his unaffected sister or in 600 ... In a proband with multiple epiphyseal dysplasia, Czarny-Ratajczak et al. (2001) identified a heterozygous mutation in the COL9A1 gene (120210.0001). His affected mother had the same mutation, which was not found in his unaffected sister or in 600 control chromosomes.