Congenital diaphragmatic hernia in CHARGE syndrome

G. Casaccia, M. C. Digilio, P. L. Seymandi, P. Bagolan

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)375-378
Number of pages4
JournalPediatric Surgery International
Volume24
Issue number3
DOIs
Publication statusPublished - Mar 2008

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Keywords

  • CHARGE syndrome
  • Congenital diaphragmatic hernia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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