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Keywords:

  • Adams–Oliver syndrome;
  • congenital heart disease;
  • truncus arteriosus;
  • aplasia cutis congenital;
  • scalp defects;
  • limb defects

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.