Valfrè Laura, Baban Anwar, Digilio Maria Cristina, Bevilacqua Francesca, Bagolan Pietro, Conforti Andrea
Department of Medical and Surgical Neonatology, Bambino Gesù Children Hospital, Rome, Italy.
Department of Cardiology and Cardiosurgery, Bambino Gesù Children Hospital, Rome, Italy.
Am J Med Genet A. 2016 Mar;170(3):707-11. doi: 10.1002/ajmg.a.37480. Epub 2015 Dec 6.
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.
格肖尼-巴鲁克综合征是一种极其罕见的畸形综合征，其特征为脐膨出、膈疝、桡骨射线缺陷和心血管异常。有研究提示其为常染色体隐性遗传。迄今为止，学术文献仅报道了7例符合该疾病诊断标准的患者，无一例存活至新生儿期。本研究报告了首例存活至婴儿早期的格肖尼-巴鲁克综合征患者。
