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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.
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.
