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  • Title: Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.
    Author: Algaze C, Esplin ED, Lowenthal A, Hudgins L, Tacy TA, Selamet Tierney ES.
    Journal: Am J Med Genet A; 2013 Jun; 161A(6):1386-9. PubMed ID: 23613382.
    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.
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