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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.

PMID:17453089
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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Progressive pseudorheumatoid chondrodysplasia of childhood.儿童进行性假类风湿性软骨发育不良
Singapore Med J. 2007 May;48(5):e151-3.
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引用本文的文献

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Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.延迟发作进行性假性类风湿性发育不良伴继发性滑膜软骨瘤病。
BMJ Case Rep. 2020 May 18;13(5):e234461. doi: 10.1136/bcr-2020-234461.
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Progressive pseudorheumatoid dysplasia: a rare childhood disease.进行性假性类风湿发育不良:一种罕见的儿童疾病。
Rheumatol Int. 2019 Mar;39(3):441-452. doi: 10.1007/s00296-018-4170-6. Epub 2018 Oct 16.
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Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis.被误诊为血清阴性幼年特发性关节炎的进行性假类风湿性发育不良
Ethiop J Health Sci. 2016 Jul;26(4):397-400. doi: 10.4314/ejhs.v26i4.12.
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A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth.一种新型生长板发育不良转基因小鼠模型揭示,由于慢性内质网应激导致的软骨细胞增殖减少是骨骼生长减少的关键因素。
Dis Model Mech. 2013 Nov;6(6):1414-25. doi: 10.1242/dmm.013342. Epub 2013 Sep 12.
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Multiple hereditary osteochondromatosis: a case report.多发性遗传性骨软骨瘤病:一例报告。
Eur J Dent. 2007 Jul;1(3):183-7.