Lethal Pena-Shokeir 1 syndrome in three male siblings.
作者信息
Gyr T, Katz M, Altermatt H J, Braga S, Duerig P, Koenig C, Schneider H
机构信息
Department of Obstetrics and Gynecology, University Hospital Bern, Switzerland.
出版信息
Arch Gynecol Obstet. 1992;251(3):149-54. doi: 10.1007/BF02718378.
PMID:1605680
Abstract
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.
摘要
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