Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by a defect in the diaphragm associated with pulmonary hypoplasia and postnatal pulmonary hypertension. Half of the cases present with other non-pulmonary congenital anomalies (so called non-isolated CDH) and in 5-10% of cases there is a chromosomal etiology. The clinical aspects of CDH are well documented but knowledge on the etiology of CDH is largely lacking. Worldwide many researchers have focused research efforts on CDH. Their findings have led to several hypotheses proposing roles for genetic and environmental factors. In this review we have combined these findings with our own research on the genetics of CDH in results from recent literature and propose a theory on the etiology of CDH. We also propose a protocol for the CDH patient that will help clinicians and researchers to obtain maximal success out of their collaborations that will eventually lead to unravelling the etiology of this intriguing birth defect.

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Keywords Congenital diaphragmatic hernia, Genetics, Lung development, Neural crest, Retinoic acid
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Journal European Journal of Medical Genetics
Klaassens, M, de Klein, J.E.M.M, & Tibboel, D. (2009). The etiology of congenital diaphragmatic hernia: Still largely unknown?. European Journal of Medical Genetics (Vol. 52, pp. 281–286). doi:10.1016/j.ejmg.2009.05.005