Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

Claudia Algaze*, Edward D. Esplin, Alexander Lowenthal, Louanne Hudgins, Theresa Ann Tacy, Elif Seda Selamet Tierney

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1386-1389
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
StatePublished - Jun 2013
Externally publishedYes


  • Adams-Oliver syndrome
  • Aplasia cutis congenital
  • Congenital heart disease
  • Limb defects
  • Scalp defects
  • Truncus arteriosus


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