Lethal pena-shokeir 1 syndrome in three male siblings

T. Gyr; M. Katz; H. J. Altermatt; S. Braga; P. Duerig; Chr Koenig; H. Schneider

doi:10.1007/BF02718378

Lethal pena-shokeir 1 syndrome in three male siblings

T. Gyr, M. Katz, H. J. Altermatt, S. Braga, P. Duerig, Chr Koenig, H. Schneider

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English
Pages (from-to)	149-154
Number of pages	6
Journal	Archives of Gynecology and Obstetrics
Volume	251
Issue number	3
DOIs	https://doi.org/10.1007/BF02718378
State	Published - 1 Sep 1992
Externally published	Yes

Keywords

Autosomal recessive inheritance
Male infants
Pena-Shokeir 1 syndrome

ASJC Scopus subject areas

Obstetrics and Gynecology

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10.1007/BF02718378

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title = "Lethal pena-shokeir 1 syndrome in three male siblings",

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.",

keywords = "Autosomal recessive inheritance, Male infants, Pena-Shokeir 1 syndrome",

author = "T. Gyr and M. Katz and Altermatt, {H. J.} and S. Braga and P. Duerig and Chr Koenig and H. Schneider",

year = "1992",

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AU - Gyr, T.

AU - Katz, M.

AU - Altermatt, H. J.

AU - Braga, S.

AU - Duerig, P.

AU - Koenig, Chr

AU - Schneider, H.

PY - 1992/9/1

Y1 - 1992/9/1

N2 - 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.

AB - 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.

KW - Autosomal recessive inheritance

KW - Male infants

KW - Pena-Shokeir 1 syndrome

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DO - 10.1007/BF02718378

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JF - Archives of Gynecology and Obstetrics

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Lethal pena-shokeir 1 syndrome in three male siblings

Abstract

Keywords

ASJC Scopus subject areas

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