Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.

Publication/Presentation Date

1-1-2017

Abstract

We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which is greater than in the general population (0.025%). This observation suggests that 22q11.2DS should be considered when a child or fetus presents with CDH, in particular when other clinical findings associated with the 22q11.2DS are present, such as congenital cardiac defects. Furthermore, this finding may lead to the identification of an additional locus for diaphragmatic hernia in the general population. © 2016 Wiley Periodicals, Inc.

Volume

173

Issue

1

First Page

135

Last Page

142

ISSN

1552-4833

Disciplines

Medicine and Health Sciences

PubMedID

27682988

Department(s)

Department of Obstetrics and Gynecology

Document Type

Article

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