Authors: G Casaccia M C Digilio P L Seymandi P Bagolan
Publish Date: 2007/06/19
Volume: 24, Issue: 3, Pages: 375-378
Abstract
Congenital diaphragmatic hernia CDH has been rarely described in CHARGE syndrome We report a patient affected by CHARGE syndrome presenting with a rightsided Bochdalektype 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
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