BACKGROUND: Congenital diaphragmatic hernia (CDH) is a major life-threatening malformation, occurring in approximately 1 in 3,000 live births. Over the years, different animal models have been used to gain insight into the etiology of this complex congenital anomaly and to develop treatment strategies. However, to date the pathogenic mechanism is still not understood, and treatment remains difficult because of the associated pulmonary hypoplasia and pulmonary hypertension. METHODS: In this review, data available from several animal models will be discussed. The retinoic acid signaling pathway (RA pathway, retinoid pathway) will be addressed as a developmental pathway that is potentially disrupted in the pathogenesis of CDH. Furthermore, genetic factors involved in diaphragm and lung development will be discussed. CONCLUSIONS: With this review article, we aim to provide a concise overview of the current most important experimental genetic data available in the field of CDH.

, , , , , ,,
Birth Defects Research. Part A: Clinical and Molecular Teratology
Erasmus MC: University Medical Center Rotterdam

Beurkens, L., Klaassens, M., Rottier, R., de Klein, A., & Tibboel, D. (2007). Linking animal models to human congenital diaphragmatic hernia. Birth Defects Research. Part A: Clinical and Molecular Teratology (Vol. 79, pp. 565–572). doi:10.1002/bdra.20370