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儿童进行性假类风湿性软骨发育不良

Progressive pseudorheumatoid chondrodysplasia of childhood.

作者信息

Shivanand G, Jain V, Lal H

机构信息

Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi 110029, India.

出版信息

Singapore Med J. 2007 May;48(5):e151-3.

Abstract

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.

摘要

进行性假类风湿性软骨发育不良是一种常染色体隐性遗传的骨骼发育异常,其特征为扁平椎体和进行性关节病。我们报告一名26岁女性,自童年晚期起就有蹒跚步态、多个关节活动逐渐受限以及指间关节肿胀的病史。她被诊断为患有与滑膜骨软骨瘤病相关的进行性假类风湿性软骨发育不良。

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