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2. Congenital diaphragmatic hernia and double-outlet right ventricle: elements of trisomy 18?

Author

Kollia, Maria, Sokou, Rozeta, Patsouras, George, Panagiotounakou, Polytimi, Iacovidou, Nicoletta, and Konstantinidi, Aikaterini

Abstract

We present a case of a term male neonate born with congenital diaphragmatic hernia (CDH), double-outlet right ventricle (DORV) and a “picture of genetic syndrome”, antenatally diagnosed, without any confirmation of a particular syndrome as no amnioparacentesis was performed. The postnatal chromosomal analysis revealed trisomy 18.

Published
2018
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