Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome
Article first published online: 23 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1386–1389, June 2013
How to Cite
2013. Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome. Am J Med Genet Part A 161A:1386–1389., , , , , .
- Issue published online: 22 MAY 2013
- Article first published online: 23 APR 2013
- Manuscript Accepted: 27 DEC 2012
- Manuscript Received: 23 SEP 2012
- Adams–Oliver syndrome;
- congenital heart disease;
- truncus arteriosus;
- aplasia cutis congenital;
- scalp defects;
- limb defects
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.