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Case Reports in Pediatrics
Volume 2017, Article ID 1368189, 4 pages
https://doi.org/10.1155/2017/1368189
Case Report

Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome

1Rush Medical College, 600 S. Paulina St., Chicago, IL 60612, USA
2Section of Pediatric Gastroenterology, Rush University Medical Center, Professional Building, 1725 W. Harrison Street, Suite 710, Chicago, IL 60612, USA

Correspondence should be addressed to Anil Kesavan; ude.hsur@navasek_a_lina

Received 6 December 2016; Accepted 15 March 2017; Published 29 March 2017

Academic Editor: Ozgur Cogulu

Copyright © 2017 Alisa Brennan and Anil Kesavan. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.