title: Gershoni-Baruch syndrome: First report of a surviving child.
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.
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Valfrè
authors.affiliation: Department of Cardiology and Cardiosurgery, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Anwar
authors.initials: A
authors.lastname: Baban
authors.affiliation: Department of Medical Genetics, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Digilio
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Bevilacqua
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Bagolan
authors.affiliation: Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Conforti
mesh_terms: D000015:Abnormalities, Multiple; D015785:Eye Diseases, Hereditary / Q000175:diagnosis*; D006554:Hernia, Umbilical / Q000175:diagnosis*; D065630:Hernias, Diaphragmatic, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011860:Radiography, Abdominal; D016216:Ultrasonography, Prenatal
keywords: Gershoni-Baruch syndrome (GBS); cadiovascular abnormalities; diaphragmatic hernia; omphalocele; radial ray defects