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J Pediatr Genet
DOI: 10.1055/s-0042-1750748
Case-Based Review

Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review

Bedour Jafar
1   Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
,
Hanna Alemayehu
2   Division of Pediatric Surgery, Department of Surgery, University of South Alabama, Mobile, Alabama, United States
,
Ramachandra Bhat
3   Division of Neonatology, Department of Pediatrics, Louisiana State University Health Science Center, Shreveport, Louisiana, United States
,
Michael Zayek 
4   Division of Neonatology, Department of Pediatrics, University of South Alabama, Mobile, Alabama, United States
› Author Affiliations Funding None.
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Abstract

Although 40 years have passed since the first case of DiGeorge's syndrome was described, and the knowledge about this disorder has steadily increased since that time, 22q11.2 deletion syndrome (DS) remains a challenging diagnosis because its clinical presentation varies widely. We describe an infant with 22q11.2 DS who presented with annular pancreas, anorectal malformation, Morgagni-type congenital diaphragmatic hernia, and ventricular septal defect. This constellation of anomalies has never been described in DiGeorge's syndrome. Here, we provide a case presentation and a thorough review of the literature.

Keywords

22q11.21 deletion syndrome - annular pancreas - anorectal malformations - Morgagni-type diaphragmatic hernia - DiGeorge's syndrome - CATCH 22


Publication History

Received: 10 September 2021

Accepted: 11 May 2022

Article published online:
02 August 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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