Hernia Research Today is a free monthly online journal that collates and summarizes the latest research about Hernia, including details on hiatal, inguinal, umbilical, abdominal, treatment.

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Pober BR

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.

Published 30 April 2007 in Am J Med Genet C Semin Med Genet, 145(2): 158-71.
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