Related Experiment Video
Updated: Nov 18, 2025
Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
Computer tomography-based quantitative analysis of the orbital proptosis severity in infants with syndromic
Rosalinda Calandrelli1, Fabio Pilato2, Antonio Marrazzo3
1Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma-UOC Radiologia e Neuroradiologia, Polo Diagnostica per immagini, radioterapia, oncologia ed ematologia, Area diagnostica per immagini, Largo Francesco Vito 1, -00168, Rome, Italy. rosalinda.calandrelli@policlinicogemelli.it.
Insights
Fibroblastic growth factor receptor 2 (FGFR2) mutations combined with posterior coronal synostosis significantly worsen orbital proptosis in craniofacial patients. This synergistic effect impacts orbital volume and globe size, leading to more severe eye protrusion.
Area of Science:
- Craniofacial abnormalities
- Genetics
- Ophthalmology
Background:
- Craniofacial synostosis involves premature fusion of skull sutures.
- Fibroblastic growth factor receptor 2 (FGFR2) mutations are implicated in certain craniofacial syndromes.
- Orbital proptosis is a common complication in craniofacial synostosis.
Purpose of the Study:
- To evaluate the pattern of coronal synostosis in relation to orbital proptosis.
- To investigate the influence of Fibroblastic growth factor receptor 2 (FGFR2) mutations on sutural fusion and orbital parameters.
- To determine the combined effect of FGFR2 mutation and specific synostosis patterns on proptosis severity.
Main Methods:
- High-resolution computed tomography (CT) was utilized to analyze coronal suture and synchondroses involvement.
- Orbital parameters including interorbital angle, bone orbital cavity volume, and globe volume were measured.
- Patients were categorized based on the presence or absence of FGFR2 mutations.
Main Results:
- Infants with FGFR2 mutations exhibited increased fusion of minor sutures along the posterior coronal branch.
- Both groups showed similar fusion patterns in the anterior coronal branch minor sutures.
- Posterior coronal branch synostosis in FGFR2-mutated infants correlated with greater proptosis, driven by reduced bony cavity and increased globe volumes.
Conclusions:
- FGFR2 mutation and posterior coronal synostosis act synergistically to increase the severity of orbital proptosis.
- The findings highlight the complex interplay between genetic factors and suture fusion in craniofacial development.
- Understanding these mechanisms is crucial for managing craniofacial synostosis and its associated complications.
Purpose:
Evaluation of orbital proptosis and sutural synostosis pattern along the coronal ring in craniofaciosynostosis patients with or without fibroblastic growth factor receptor 2 (FGFR2) mutation.
Methods:
High-resolution computer tomography was used to assess, in children with or without FGFR2 mutation, the early synostotic involvement of the "major" and "minor" sutures/synchondroses of the coronal arch along with the following orbital parameters: interorbital angle, bone orbital cavity volume, globe volume, ventral globe volume, ventral globe index.
Results:
Infants with FGFR2 mutation showed an increased number of closed minor sutures/synchondroses along the posterior coronal branch while both groups showed a comparable synostotic involvement of the minor sutures of the anterior coronal branch. FGFR2 infants with posterior coronal branch synostotic involvement showed a higher degree of proptosis due to both reduced bony cavity volume and increased globe volume (p<0.05).
Conclusions:
Our data show that FGFR2 mutation together with posterior coronal branch synostotic involvement has a synergic effect in causing a more severe degree of orbital proptosis.
