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Unique variant of Adams–Oliver syndrome with dilated cardiomyopathy and heart block |
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| Authors: | Halil Ibrahim Atasoy Esra Tug Taner Yavuz Naci Cine |
| Affiliation: | 1. Department of Pediatrics, Faculty of Medicine, Abant Izzet Baysal University, , Bolu;2. Department of Medical Genetics, Faculty of Medicine, Gazi University, , Ankara;3. Department of Medical Genetics, Faculty of Medicine, Kocaeli University, , Kocaeli, Turkey |
| 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. |
| Keywords: | Adams– Oliver syndrome atrioventricular block dilated cardiomyopathy smoking thrombophilia |