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A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome

Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most comm...

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Published in:	Pediatric cardiology 2013-06, Vol.34 (5), p.1244-1246
Main Authors:	von Elten, Kelley, Sawyer, Taylor, Lentz-Kapua, Sarah, Kanis, Adam, Studer, Matthew
Format:	Article
Language:	English
Subjects:	Cardiac Surgery Cardiology Case Report Congenital heart disease Diagnosis, Differential Diseases Fatal Outcome Gene mutations Genetic aspects Heart Heart diseases Humans Infant, Newborn Karyotyping Male Medicine Medicine & Public Health Neonatology Phenotype Ultrasonography, Prenatal Vascular Surgery Wolf-Hirschhorn Syndrome - diagnosis
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description	Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.
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subjects	Cardiac Surgery Cardiology Case Report Congenital heart disease Diagnosis, Differential Diseases Fatal Outcome Gene mutations Genetic aspects Heart Heart diseases Humans Infant, Newborn Karyotyping Male Medicine Medicine & Public Health Neonatology Phenotype Ultrasonography, Prenatal Vascular Surgery Wolf-Hirschhorn Syndrome - diagnosis
title	A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome
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