Akdeniz C, Odemis E, Erdem A, Celebi A
Department of Pediatric Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Center and Research Hospital, Istanbul, Turkey.
Genet Couns. 2009;20(2):161-6.
We report a patient with Cornelia de Lange syndrome with congenital cardiac malformation; double outlet right ventricle and aortopulmonary window. This is the first report describing this combination of findings for Cornelia de Lange syndrome. Behalf of this report, the pathogenesis of congenital heart disease in Cornelia de Lange syndrome was also revisited.
我们报告了一名患有科妮莉亚·德朗热综合征并伴有先天性心脏畸形（右心室双出口和主肺动脉窗）的患者。这是首次描述科妮莉亚·德朗热综合征出现这种综合表现的报告。基于本报告，还重新探讨了科妮莉亚·德朗热综合征中心脏病的发病机制。
