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Gershoni-Baruch syndrome: First report of a surviving child.
Valfrè, Laura; Baban, Anwar; Digilio, Maria Cristina; Bevilacqua, Francesca; Bagolan, Pietro; Conforti, Andrea.
Afiliação
  • Valfrè L; Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
  • Baban A; Department of Cardiology and Cardiosurgery, Bambino Gesù Children Hospital, Rome, Italy.
  • Digilio MC; Department of Medical Genetics, Bambino Gesù Children Hospital, Rome, Italy.
  • Bevilacqua F; Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
  • Bagolan P; Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
  • Conforti A; Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
Am J Med Genet A ; 170(3): 707-11, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26639892
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Hérnias Diafragmáticas Congênitas / Hérnia Umbilical Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmopatias Hereditárias / Hérnias Diafragmáticas Congênitas / Hérnia Umbilical Tipo de estudo: Diagnostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article