Department of Surgery, Children's Hospital of Boston, Boston, MA, USA. barbara.pober@childrens.harvard.edu
Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. (c) 2007 Wiley-Liss, Inc.