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.

Computer tomography–based quantitative analysis of the orbital proptosis severity in infants with syndromic craniosynostosis: case-control study

Pilato F.;
2021-01-01

Abstract

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.
Coronal sutural pattern
FGFR2 mutation
High-resolution CT
Orbital proptosis severity
Case-Control Studies
Child
Cranial Sutures
Humans
Infant
Retrospective Studies
Tomography, X-Ray Computed
Craniosynostoses
Exophthalmos
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12610/67301
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