Progressive pseudorheumatoid chondrodysplasia of childhood

Progressive pseudorheumatoid chondrodysplasia is an autosomal recessively inherited skeletal dysplasia, characterised by platyspondyly and progressive arthropathy. We report a 26-year-old woman who presented with a history of waddling gait, progressive restriction of movements of several joints and swelling of interphalangeal joints since her late childhood. She was diagnosed to have progressive pseudorheumatoid chondrodysplasia associated with synovial osteochondromatosis.