Isolated frontosphenoidal craniosynostosis with pathogenic FGFR3 variant: a case report and genetic insights
This case highlights the importance of molecular genetic testing in nonsyndromic craniosynostosis and the potential role of <i>FGFR3</i> variants in IFSC. Early diagnosis and surgical intervention are crucial, advocating for a staged genetic testing approach in similar cases. These findings emphasize IFSC's genetic basis and its consideration in cranial deformity diagnoses.
Authors
- Xiaoqiang Wang (ORCID: https://orcid.org/0000-0003-1825-0895)
- Jiajia Wang (ORCID: https://orcid.org/0000-0002-1843-3977)
- Beile Gao (ORCID: https://orcid.org/0000-0002-5295-3415)
- Zhongfu Ni (ORCID: https://orcid.org/0000-0003-4524-7720)
- Jia Wei (ORCID: https://orcid.org/0000-0002-5879-3870)
- Meiling Liu (ORCID: https://orcid.org/0000-0001-7953-1506)
- Bingxue Liu (ORCID: https://orcid.org/0000-0002-7335-4710)
Institutions
- Shanghai Jiao Tong University (CN)
- XinHua Hospital (CN)
Publication Details
- Journal
- Translational Pediatrics
- Published
- 2025-10-01
- DOI
- https://doi.org/10.21037/tp-2025-417
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00