Congenital diaphragmatic hernia in CHARGE syndrome

摘要

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings.