Article
Gershoni-Baruch syndrome: First report of a surviving child.
American journal of medical genetics. Part A - 1 Mar 2016
Valfrè Laura, Baban Anwar, Digilio Maria Cristina, Bevilacqua Francesca, Bagolan Pietro, Conforti Andrea
Abstract excerpt
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...
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