假性软骨发育不全性发育异常
Pseudoachondroplastic dysplasia.
作者信息
Khungar A, Mahajan P, Gupte G, Vasundhara M, Kher A, Bharucha B A
机构信息
Dept of Pediatrics, Seth GS Medical College, Bombay, Maharashtra.
出版信息
J Postgrad Med. 1993 Apr-Jun;39(2):91-3.
PMID:8169872
Abstract
Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.
摘要
假性软骨发育不全是一种异质性遗传性骨骼发育不良，其中侏儒症是主要特征。我们在此报告一例7岁女孩，最初被误诊为佝偻病，该患儿表现为身材矮小、脊柱前凸、膝内翻以及双肘屈曲畸形。骨骼检查显示骨骺和干骺端不规则。本文还对相关文献进行了综述。
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