Related Experiment Video
Updated: Apr 19, 2026
08:03
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
435
Achondroplasia and multiple-suture craniosynostosis
Frank P Albino1, Benjamin C Wood, Chima O Oluigbo
1From the *Divisions of Plastic Surgery, †Neurosurgery, and ‡Anesthesiology, Sedation and Perioperative Medicine, Children's National Medical Center, Washington, DC.
The Journal of Craniofacial Surgery
|December 16, 2014
Summary
Genetic mutations in fibroblast growth factor receptor 3 can cause achondroplasia and craniosynostosis. This study reports a rare case of achondroplasia with craniosynostosis, exploring their genetic link and surgical management.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Fibroblast growth factor receptor 3 (FGFR3) gene mutations are linked to achondroplasia and syndromic craniosynostosis.
- Craniosynostosis is infrequently observed in individuals with achondroplasia, despite a shared genetic etiology.
Observation:
- A case report of an infant diagnosed with achondroplasia is presented.
- This infant subsequently developed progressive, multiple-suture craniosynostosis.
Findings:
- The study investigates the genetic connection between achondroplasia and craniosynostosis.
- It highlights the rarity of craniosynostosis co-occurrence in achondroplasia.
Implications:
- Understanding the FGFR3 genetic link can improve diagnosis and management of these conditions.
- The report details surgical challenges in managing craniosynostosis in achondroplasia patients.
- This case contributes to the literature on rare genetic disorder presentations.
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