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Research: Embryology and anatomy of congenital diaphragmatic hernia

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Research: Embryology and anatomy of congenital diaphragmatic hernia

Semin Pediatr Surg

. 2022 Nov 16;31(6):151229. https://pubmed.ncbi.nlm.nih.gov/36446305/

 doi: 10.1016/j.sempedsurg.2022.151229. Online ahead of print.

Embryology and anatomy of congenital diaphragmatic hernia

Nolan De Leon 1Wai Hei Tse 1Dustin Ameis 1Richard Keijzer 2

Affiliations expand

Abstract

Prenatal and postnatal treatment modalities for congenital diaphragmatic hernia (CDH) continue to improve, however patients still face high rates of morbidity and mortality caused by severe underlying persistent pulmonary hypertension and pulmonary hypoplasia. Though the majority of CDH cases are idiopathic, it is believed that CDH is a polygenic developmental defect caused by interactions between candidate genes, as well as environmental and epigenetic factors. However, the origin and pathogenesis of these developmental insults are poorly understood. Further, connections between disrupted lung development and the failure of diaphragmatic closure during embryogenesis have not been fully elucidated. Though several animal models have been useful in identifying candidate genes and disrupted signalling pathways, more studies are required to understand the pathogenesis and to develop effective preventative care. In this article, we summarize the most recent litterature on disrupted embryological lung and diaphragmatic development associated with CDH.

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