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. (c) 2015 Wiley Periodicals, Inc.
Valfre, L., Baban, A., Digilio, M.c., Bevilacqua, F., Bagolan, P., Conforti, A. (2016). Gershoni-Baruch syndrome: First report of a surviving child. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 170(3), 707-711 [10.1002/ajmg.a.37480].
Gershoni-Baruch syndrome: First report of a surviving child
Bagolan P.;
2016-01-01
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. (c) 2015 Wiley Periodicals, Inc.| File | Dimensione | Formato | |
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