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Expanding the Phenotype of Cardiovascular Malformations in Adams-Oliver Syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A Algaze, C., Esplin, E. D., Lowenthal, A., Hudgins, L., Tacy, T. A., Tierney, E. S. 2013; 161A (6): 1386-1389

Abstract

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.

View details for DOI 10.1002/ajmg.a.35864

View details for Web of Science ID 000320649700021