Related Experiment Video
Updated: Jul 14, 2026

Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
Congenital diaphragmatic hernia in CHARGE syndrome
G Casaccia1, M C Digilio, P L Seymandi
1Department of Surgical and Medical Neonatology, Bambino Gesù Pediatric Hospital, Rome, Italy. germanacasaccia@hotmail.com
Abstract:
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.
Related Concept Videos
Hiatal Hernia
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Pneumothorax-I
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.
Esophageal Achalasia
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pneumothorax II: Pathophysiology