Article
Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
American journal of medical genetics. Part A - 1 Jan 2017
Unolt Marta, DiCairano Lauren, Schlechtweg Kathryn, Barry Jessica, Howell Lori, Kasperski Stefanie, Nance Michael, Adzick N Scott, Zackai Elaine H, McDonald-McGinn Donna M
Abstract excerpt
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...
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