CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1618512
Unveiling CHARGE Syndrome: A Neonatal Case Study with Esophageal Atresia and Feeding Difficulties
Provisionally accepted
- 1Guangdong Medical University, Zhanjiang, Guangdong, China
- 2Department of Neonatology, Yuebei People's Hospital, Guangdong Medical University, Shaoguan, China
- 3Guangdong Province Critical Newborn Rescue Center(North Guangdong), shaoguan, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
CHARGE syndrome is a collection of congenital malformations resulting from pathogenic variants that cause loss of function in the CHD7 gene. These malformations are characterized by coloboma, heart defects, atresia of the choanae, growth retardation, genital abnormalities, and ear abnormalities. We report a case of neonatal CHARGE syndrome, which presented with congenital esophageal atresia and feeding difficulties. Genetic analysis confirmed the presence of a mutation in the CHD7 gene. The diagnosis of CHARGE syndrome should be considered and confirmed through CHD7 gene sequencing in fetuses with esophageal atresia suspected by prenatal ultrasound, especially when combined with multiple malformations and feeding difficulties post-birth.
Keywords: CHARGE Syndrome, CHD7, Esophageal Atresia, Feeding difficulties, Congenital disorders
Received: 26 Apr 2025; Accepted: 23 Sep 2025.
Copyright: © 2025 Gao, Li, Hu, Zeng and Qiu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: JianWu Qiu, qiujianwu@yeah.net
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.