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 journalArticlepeer-review

8 Scopus citations


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 languageEnglish
Pages (from-to)149-154
Number of pages6
JournalArchives of Gynecology and Obstetrics
Issue number3
StatePublished - 1 Sep 1992
Externally publishedYes


  • Autosomal recessive inheritance
  • Male infants
  • Pena-Shokeir 1 syndrome

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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