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[勒里-韦尔综合征(软骨发育不全)。2例临床病例描述]

[Leri-Weill syndrome (dyschondrosteosis). Description of 2 clinical cases].

作者信息

Radetti G, Pasquino B, Munari E, Mengarda G

机构信息

Reparto di Pediatria, Ospedale Generale di Bolzano, Italia.

出版信息

Pediatr Med Chir. 1987 May-Jun;9(3):367-70.

PMID:3671136
Abstract

We describe two children with Leri-Weill syndrome (Dyschondrosteosis), one of which showed the clinical features at very early age. Stature was moderately reduced in both, due to shortening of the bones of the legs. Furthermore were evident in them the clinical and radiological features of the propositus and of their affected parents are described. The problems concerning the early recognizing of the disease and the genetic inheritance are discussed.

摘要

我们描述了两名患有勒里-韦尔综合征(骨软骨发育不全)的儿童,其中一名在非常年幼时就表现出了临床特征。两人的身材均有中度降低,原因是腿部骨骼缩短。此外,还阐述了先证者及其患病父母的临床和放射学特征。文中讨论了关于该疾病早期识别及遗传的问题。

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