LETHAL PENA-SHOKEIR-1 SYNDROME IN 3 MALE SIBLINGS

被引：7

作者：

GYR, T

KATZ, M

ALTERMATT, HJ

BRAGA, S

DUERIG, P

KOENIG, C

SCHNEIDER, H

机构：

[1] UNIV BERN, INST PATHOL, CH-3012 BERN, SWITZERLAND

[2] UNIV HOSP BERN, DEPT PEDIAT, CH-3012 BERN, SWITZERLAND

来源：

ARCHIVES OF GYNECOLOGY AND OBSTETRICS | 1992年 / 251卷 / 03期

关键词：

PENA-SHOKEIR-1; SYNDROME; MALE INFANTS; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1007/BF02718378

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

A consanguineous family with no living children and three male siblings with Pena-Shokeir 1 syndrome is described. Two children died antepartum and the third shortly after delivery. The importance of early prenatal diagnosis, appropriate counseling and thorough evaluation of the neuromuscular system is discussed.

引用

页码：149 / 154

页数：6

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