Evidence map›Paper›PMID 40695519›Full record

ReviewZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].

Cui-Yun Li, Ying Xu, Ru-En Yao, Ying Yu, Xue-Ting Chen, Wei Li, Hui Zeng, Li-Ting Chen

Abstract readCase ReportsReviewEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Cui-Yun LiDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Ying XuDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Ru-En YaoDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Ying YuDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Xue-Ting ChenDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Wei LiDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Hui ZengDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
Li-Ting ChenDepartment of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 19Ectodermal DysplasiaFailure to ThriveHeart Defects, CongenitalFaciesHumans19p13.3 microdeletionCardiofaciocutaneous syndromeChildMAP2K2 geneTargeted gene sequencing technology

Identifiers

PMID40695519
PMCPMC12291563

What OpenQuestion holds

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Registered trials

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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.