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重新审视戈德斯顿综合征。

Goldston syndrome reconsidered.

作者信息

Moerman P, Pauwels P, Vandenberghe K, Lauweryns J M, Fryns J P

机构信息

Department of Pathology I, Katholieke Universiteit, Leuven, Belgium.

出版信息

Genet Couns. 1993;4(2):97-102.

PMID:8357569
Abstract

We describe two siblings with the combination of central nervous system malformations, renal dysplasia and hepatic ductal plate malformation. Based on the occurrence of a cerebellar Dandy-Walker malformation (variant), the diagnosis of Goldston syndrome was proposed in the first case. The second sibling however, showed a typical Meckel syndrome with occipital encephalocele. Both cases had a cranium bifidum with two defects in the squamous part of the occipital bone. This observation confirms that Goldston syndrome is not a distinct entity but merely a variant of Meckel syndrome, and that a cerebellar Dandy-Walker malformation can be a component of Meckel syndrome.

摘要

我们描述了两名患有中枢神经系统畸形、肾发育不全和肝导管板畸形的兄弟姐妹。基于小脑Dandy-Walker畸形(变异型)的出现,首例病例被诊断为戈德斯顿综合征。然而,第二名兄弟姐妹表现出典型的梅克尔综合征并伴有枕部脑膨出。两例均有颅骨裂,枕骨鳞状部有两处缺损。这一观察结果证实,戈德斯顿综合征并非一个独特的实体,而仅仅是梅克尔综合征的一种变异型,并且小脑Dandy-Walker畸形可以是梅克尔综合征的一个组成部分。

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