Gershoni-Baruch syndrome: First report of a surviving child

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Abstract

Gershoni-Baruch syndrome is an extremely rare malformation complex characterized by omphalocele, diaphragmatic hernia, radial ray defects, and cardiovascular abnormalities. Autosomal recessive inheritance was suggested. To date, academic literature described only seven patients fulfilling the diagnostic criteria for the condition. None survived the neonatal period. This study reports the first individual with Gershoni-Baruch syndrome surviving past early infancy.

Original languageEnglish
Pages (from-to)707-711
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number3
DOIs
Publication statusPublished - Mar 1 2016

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Keywords

  • Cadiovascular abnormalities
  • Diaphragmatic hernia
  • Gershoni-Baruch syndrome (GBS)
  • Omphalocele
  • Radial ray defects

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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