Journal article
A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene
Journal of pediatric genetics (Birmingham, Ala.), Vol.8(3), pp.142-146
09/01/2019
DOI: 10.1055/s-0038-1677551
PMCID: PMC6688876
PMID: 31406620
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.
Details
- Title: Subtitle
- A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene
- Creators
- Trassanee Chatmethakul - University of South AlabamaRozaleen Phaltas - University of South AlabamaGwen Minzes - University of South AlabamaJose Martinez - University of South AlabamaRamachandra Bhat - University of South Alabama
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric genetics (Birmingham, Ala.), Vol.8(3), pp.142-146
- DOI
- 10.1055/s-0038-1677551
- PMID
- 31406620
- PMCID
- PMC6688876
- NLM abbreviation
- J Pediatr Genet
- ISSN
- 2146-4596
- eISSN
- 2146-460X
- Publisher
- Georg Thieme Verlag KG
- Number of pages
- 5
- Language
- English
- Date published
- 09/01/2019
- Academic Unit
- Stead Family Department of Pediatrics; Neonatology
- Record Identifier
- 9984958333002771
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