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Case Reports
. 1992;251(3):149-54.
doi: 10.1007/BF02718378.

Lethal Pena-Shokeir 1 syndrome in three male siblings

T Gyr  1 , M Katz, H J Altermatt, S Braga, P Duerig, C Koenig, H Schneider
Affiliations
Case Reports

Lethal Pena-Shokeir 1 syndrome in three male siblings

T Gyr et al. Arch Gynecol Obstet. 1992.

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.

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