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梅克尔-格鲁伯综合征。一种异常情况的致命组合。

Meckel-Gruber syndrome. A lethal combination of abnormalities.

作者信息

Coard K C, Escoffery C T

机构信息

Department of Pathology, U.W.I., Jamaica.

出版信息

West Indian Med J. 1990 Mar;39(1):52-6.

PMID:2333699
Abstract

We herein describe two cases of Meckel-Gruber Syndrome identified in stillborn infants. Both had all three elements of the classical triad, namely, occipital encephalocele, renal cystic dysplasia and post-axial polydactyly. In addition, many of the other well-known accompanying abnormalities were present. Awareness of this entity in this region is important because of its high risk of recurrence in subsequent pregnancies.

摘要

我们在此描述两例在死产婴儿中确诊的梅克尔-格鲁伯综合征病例。两例均具备经典三联征的所有三个要素,即枕部脑膨出、肾囊性发育异常和轴后多指畸形。此外,还存在许多其他众所周知的伴随异常情况。鉴于该病症在后续妊娠中有较高的复发风险,因此在该地区认识这一病症很重要。

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