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兄弟姐妹中的Chiari I型畸形与特发性生长激素缺乏症:三例报告

Chiari I malformation and idiopathic growth hormone deficiency in siblings: report of three cases.

作者信息

Murphy R Lee, Tubbs R Shane, Grabb Paul A, Oakes W Jerry

机构信息

University of Alabama School of Medicine, Birmingham, AL 35233, USA.

出版信息

Childs Nerv Syst. 2007 Oct;23(10):1221-3. doi: 10.1007/s00381-007-0374-x. Epub 2007 May 30.

Abstract

INTRODUCTION

The authors report a case of three brothers.

CASE DESCRIPTIONS

Two of these siblings presented with congenital growth hormone deficiency (GHD) and Chiari I malformation (CIM). The third younger brother has been found not to have GHD or the CIM.

DISCUSSION

Sparse cases of these two clinical occurrences have been reported. Further, the posterior cranial fossa (PF) has been determined to be altered in patients with CIM and GHD.

CONCLUSION

Our current case reports strengthen the association between these two pathological entities and, to our knowledge, is the first description of both defects in siblings.

摘要

引言

作者报告了一例三兄弟的病例。

病例描述

其中两兄弟患有先天性生长激素缺乏症(GHD)和 Chiari I 畸形(CIM)。发现三弟既没有生长激素缺乏症也没有 Chiari I 畸形。

讨论

这两种临床情况的病例报告较少。此外,已确定后颅窝(PF)在患有 Chiari I 畸形和生长激素缺乏症的患者中发生改变。

结论

我们目前的病例报告强化了这两种病理实体之间的关联,据我们所知,这是对兄弟姐妹中这两种缺陷的首次描述。

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