Gershoni-Baruch syndrome: First report of a surviving child

Am J Med Genet A. 2016 Mar;170(3):707-11. doi: 10.1002/ajmg.a.37480. Epub 2015 Dec 6.

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.

Keywords: Gershoni-Baruch syndrome (GBS); cadiovascular abnormalities; diaphragmatic hernia; omphalocele; radial ray defects.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Eye Diseases, Hereditary / diagnosis*
  • Hernia, Umbilical / diagnosis*
  • Hernias, Diaphragmatic, Congenital / diagnosis*
  • Humans
  • Infant
  • Male
  • Phenotype
  • Radiography, Abdominal
  • Ultrasonography, Prenatal

Supplementary concepts

  • Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects