title: Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.
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.
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA. calgaze@stanford.edu
authors.forename: Claudia
authors.initials: C
authors.lastname: Algaze
authors.forename: Edward D
authors.initials: ED
authors.lastname: Esplin
authors.forename: Alexander
authors.initials: A
authors.lastname: Lowenthal
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Theresa Ann
authors.initials: TA
authors.lastname: Tacy
authors.forename: Elif Seda
authors.initials: ES
authors.lastname: Selamet Tierney
mesh_terms: D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D010641:Phenotype; D011859:Radiography; D012536:Scalp Dermatoses / Q000150:complications / Q000151:congenital* / Q000000981:diagnostic imaging; D014339:Truncus Arteriosus, Persistent / Q000150:complications* / Q000000981:diagnostic imaging