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

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Barbara R Pober


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.


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