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脊椎骨骺发育不良:多种表型——同一综合征。

Spondyloenchondrodysplasia: several phenotypes--the same syndrome.

作者信息

Uhlmann D, Rupprecht E, Keller E, Hörmann D

机构信息

2nd Department of Surgery, University of Leipzig, Liebigstrasse 20 a, D-04 103 Leipzig, Germany.

出版信息

Pediatr Radiol. 1998 Aug;28(8):617-21. doi: 10.1007/s002470050431.

Abstract

We present details of a dwarfing skeletal dysplasia in two boys. Radiographs show multiple enchondromas of tubular and flat bones together with abnormalities of the spinal column. Clinical, laboratory and radiological findings enable this entity to be grouped within the spectrum of enchondromatoses with vertebral changes. A literature review suggests heterogeneity of this group of conditions.

摘要

我们介绍了两名男孩患有一种矮小性骨骼发育异常的详细情况。X线片显示管状骨和平板骨有多个内生软骨瘤,同时伴有脊柱异常。临床、实验室和放射学检查结果使该病症可归类于伴有椎体改变的内生软骨瘤病范围内。文献综述表明这组病症具有异质性。

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