| Literature DB >> 26230226 |
Elizabeth C Bertsch1, Lucy Minturn1, Nina L Gotteiner2, Linda M Ernst1.
Abstract
A 20-week-old fetus with the 22q11.2 deletion characteristic of DiGeorge syndrome is described with vertebral segmentation abnormalities and complex cardiovascular anomalies including an absent aortic valve. This is only the second known case of absent aortic valve in association with DiGeorge syndrome. We discuss the association of absent aortic valve with other conotruncal defects and the utility of fetal echocardiography in the diagnosis of DiGeorge syndrome.Entities:
Keywords: 22q deletion syndrome; DiGeorge syndrome; absent aortic valve; aortic valve anomalies
Mesh：
Year: 2015 PMID： 26230226 DOI： 10.2350/15-03-1616-CR.1
Source DB: PubMed Journal: Pediatr Dev Pathol ISSN： 1093-5266