title: Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block.
abstract: Reported herein is the case of a 2-year-old boy with Adams-Oliver syndrome who presented with dilated cardiomyopathy and complete atrioventricular block. The patient had aplasia cutis congenita with partial aplasia of the skull bones, and terminal transverse limb malformations characteristic of the disease. Although congenital cardiac malformations may be associated with the syndrome, dilated cardiomyopathy has not been previously reported to be associated with the syndrome.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Abant Izzet Baysal University, Bolu, Turkey. halilibrahimatasoy@gmail.com
authors.forename: Halil Ibrahim
authors.initials: HI
authors.lastname: Atasoy
authors.forename: Esra
authors.initials: E
authors.lastname: Tug
authors.forename: Taner
authors.initials: T
authors.lastname: Yavuz
authors.forename: Naci
authors.initials: N
authors.lastname: Cine
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004452:Echocardiography; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis; D004562:Electrocardiography; D006327:Heart Block / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000175:diagnosis; D008297:Male; D012536:Scalp Dermatoses / Q000150:complications / Q000151:congenital* / Q000175:diagnosis
keywords: Adams-Oliver syndrome; atrioventricular block; dilated cardiomyopathy; smoking; thrombophilia