CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1643266
This article is part of the Research TopicInnovative Approaches in Craniofacial Defect Reconstruction: Bridging Clinical and Basic ScienceView all articles
A Chinese premature infant with cleidocranial dysplasia characterized by heterozygous RUNX2 mutation and cerebral infarction : a case report
Provisionally accepted
- 1Inner Mongolia Medical College, Hohhot, China
- 2Inner Mongolia Medical University, Hohhot, China
- 3Shanghai, shanghai, 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
This case report describes a Chinese preterm neonate with postnatal asphyxia and cerebral infarction. Clinical examination revealed significant cranial defects, hypertelorism, nasal bone depression, and mild limb shortening. Brain MRI confirmed cerebral infarction, while cranial CT reconstruction demonstrated widened cranial sutures,patent fontanelles, and partial skull defects. Chest X-ray showed a thinner and shorter right clavicle with reduced bone density. Genetic testing identified a heterozygous mutation in the RUNX2 gene (c.674G>A, p.Arg225Gln), confirming cleidocranial dysplasia (CCD). CCD is a rare inherited skeletal disorder with a low incidence. This represents the first documented case in Inner Mongolia, China, highlighting the importance of recognizing CCD phenotypes and genetic correlates of RUNX2 mutations to improve early diagnosis.
Keywords: case report, premature infant, Cleidocranial dysplasia (CCD), RUNX2, genetic
Received: 11 Jun 2025; Accepted: 25 Aug 2025.
Copyright: © 2025 Zhao, arigongg, Cai, Zhang, An and Zhuo. 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: gaowa arigongg, Inner Mongolia Medical University, Hohhot, China
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.