Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.

Fangjian Gao, Shuyan Li, Li Hu, Yali Zeng, Jianwu Qiu

Abstract readCase Reports

In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Case Report: Differential outcomes associated with the same pathogenic variant: long-term follow-up of a CHARGE syndrome case with a nonsense mutation c.6292C>T in the CHD gene.Frontiers in genetics · 2026
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Fangjian GaoGuangdong Medical University, Zhanjiang, China.

Shuyan LiGuangdong Medical University, Zhanjiang, China.

Li HuDepartment of Neonatology, Yuebei People's Hospital, Guangdong Medical University, Shaoguan, China.

Yali ZengDepartment of Neonatology, Yuebei People's Hospital, Guangdong Medical University, Shaoguan, China.

Jianwu QiuDepartment of Neonatology, Yuebei People's Hospital, Guangdong Medical University, Shaoguan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

CHARGE syndromeCHD7congenital disordersesophageal atresiafeeding difficulties

Identifiers

PMID41210246

DOI10.3389/fped.2025.1618512

PMCPMC12588899

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.