Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome. Issue 6 (23rd April 2013)

• Record Type: Journal Article
• Authors: Algaze, Claudia; Esplin, Edward D.; Lowenthal, Alexander; Hudgins, Louanne; Tacy, Theresa Ann; Selamet Tierney, Elif Seda
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1386
• Page End: 1389
• Publication Date: 2013-04-23
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35864
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35864-sec-0001" sec-type="section"> <p>We describe a newborn with a phenotype consistent with Adams–Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams–Oliver syndrome. We review other reports of Adams–Oliver syndrome previously described with cardiovascular malformations, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of Adams–Oliver syndrome is suspected in the differential diagnosis. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>