A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report

This case underscores the importance of recognizing the clinical and genetic features of RUNX2-related CCD to facilitate early and accurate diagnosis. The findings aim to enhance clinical awareness of this rare condition, particularly in regions where it has not been previously reported, and to promote timely intervention and genetic counseling.

Authors

Wuyun Zhao
Yunfei An (ORCID: https://orcid.org/0000-0001-9664-1256)
Cheng Cai (ORCID: https://orcid.org/0000-0001-8994-9674)
Xiaoyan Zhang (ORCID: https://orcid.org/0000-0001-5784-1503)
Na Zhuo
Gaowa Arigong

Institutions

Shanghai Jiao Tong University (CN)
Inner Mongolia Maternal and Child Health (CN)
Shanghai Children's Hospital (CN)

Publication Details

Journal: Frontiers in Pediatrics
Published: 2025-09-15
DOI: https://doi.org/10.3389/fped.2025.1643266
Primary Topic: Bone health and treatments
Type: article
Field-Weighted Citation Impact: 0.00

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article

A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report

Wuyun Zhao, Yunfei An, Cheng Cai, Xiaoyan Zhang et al.

Sep 15, 2025

Frontiers in Pediatrics

Bone health and treatments

article

A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report

Wuyun Zhao, Yunfei An, Cheng Cai, Xiaoyan Zhang, Na Zhuo, Gaowa Arigong

September 15, 2025article en

Abstract

This case underscores the importance of recognizing the clinical and genetic features of RUNX2-related CCD to facilitate early and accurate diagnosis. The findings aim to enhance clinical awareness of this rare condition, particularly in regions where it has not been previously reported, and to promote timely intervention and genetic counseling.

Frontiers in PediatricsVol. 13

Shanghai Jiao Tong University (CN), Inner Mongolia Maternal and Child Health (CN), Shanghai Children's Hospital (CN)

Openalex Percentile: Top 66%

Bone health and treatments

DOI Open Access PDF OpenAlex

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A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction: a case report — Wuyun Zhao, Yunfei An, et al. · Frontiers in Pediatrics (2025) | TGRS Research Map | TGRS