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J Pediatr Genet 2019; 08(03): 142-146
DOI: 10.1055/s-0038-1677551
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

Trassanee Chatmethakul
1   Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
,
Rozaleen Phaltas
1   Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
,
Gwen Minzes
1   Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
,
Jose Martinez
2   Division of Medical Genetics, Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
,
Ramachandra Bhat
1   Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
› Author Affiliations Funding None.
Further Information

Publication History

03 October 2018

18 December 2018

Publication Date:
14 January 2019 (online)

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Abstract

We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg–Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.

Keywords

Hirschsprung's disease - small intestinal malrotation - 13q deletion syndrome - Waardenburg's syndrome type 4A
 

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