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Genetic aspects of human congenital diaphragmatic hernia


Dr Barbara R. Pober, Center for Human Genetics, Massachusetts General Hospital, Simches Research Building, Room 222, 185 Cambridge Street, Boston, MA 02114, USA.
Tel.: 617 726-1561;
fax: 617 726-1566;
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Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000–1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are genetically determined and also indicate that CDH is etiologically heterogeneous. The present review will provide a brief summary of diaphragm development and model organism work most relevant to human CDH and will primarily describe important human phenotypes associated with CDH and also provide recommendations for diagnostic evaluation of a fetus or infant with CDH.