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Am. J. Med. Genet. A · Jun 2013
Review Case ReportsExpanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.
- Claudia Algaze, Edward D Esplin, Alexander Lowenthal, Louanne Hudgins, Theresa Ann Tacy, and Elif Seda Selamet Tierney.
- Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA. calgaze@stanford.edu
- Am. J. Med. Genet. A. 2013 Jun 1; 161A (6): 1386-9.
AbstractWe 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.Copyright © 2013 Wiley Periodicals, Inc.
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