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Updated: Apr 14, 2026
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive
Guillaume Coll1, Eric Arnaud, Corinne Collet
1*Unité de Chirurgie Craniofaciale, Service de Neurochirurgie Pédiatrique, Centre de Référence National des Dysostoses Crâniofaciales, Hôpital Necker-Enfants Malades, APHP, Paris, France; ‡Service de Neurochirurgie, Hôpital Gabriel Montpied, Clermont-Ferrand, France; §Laboratoire d'anatomie, UFR Médecine, Universite[Combining Acute Accent] d'Auvergne, Clermont-Ferrand, France; ¶Image-Guided Clinical Neuroscience and Connectomics, EA 7282, UFR Médecine, Université Clermont 1, Universite d'Auvergne, Clermont-Ferrand, France; ‖Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, APHP, Paris, France; #Département de Radiologie, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Insights
In children with FGFR2 mutations, a small foramen magnum area is linked to hydrocephalus. Hydrocephalus and cerebellar tonsil ectopia (CTE) were also found to be associated in these patients.
Area of Science:
- Pediatric Neurosurgery
- Craniofacial Surgery
- Medical Genetics
Background:
- Faciocraniosynostosis in children can lead to skull base abnormalities, hydrocephalus, and cerebellar tonsil ectopia (CTE).
- Previous hypotheses on these associations lacked investigation in genetically homogeneous populations with confirmed fibroblast growth factor receptor type 2 (FGFR2) mutations.
- This study addresses the gap by examining correlations between skull base features and hydrocephalus/CTE in children with FGFR2 mutations.
Purpose of the Study:
- To investigate the relationship between specific skull base measurements and the occurrence of hydrocephalus or CTE.
- To analyze these features in infants and young children (<2 years) with genetically confirmed FGFR2-related faciocraniosynostosis.
Main Methods:
- Computed tomography (CT) scans of 31 children with FGFR2 mutations (Crouzon, Apert, Pfeiffer syndromes) and 17 controls (<24 months) were analyzed.
- Measurements included foramen magnum area (FMA), jugular foramen dimensions, posterior fossa volume, and cerebellar volume.
- These parameters were correlated with the presence of hydrocephalus or CTE.
Main Results:
- Children with Crouzon and Pfeiffer syndromes exhibited a significantly smaller foramen magnum area (FMA) due to reduced sagittal diameter.
- A small FMA was statistically associated with the presence of hydrocephalus (P = .02).
- Hydrocephalus and CTE were significantly associated (P = .002), though jugular foramen size, posterior fossa, and cerebellar volumes were not directly linked to hydrocephalus or CTE.
Conclusions:
- A small foramen magnum area is a significant finding associated with hydrocephalus in infants with FGFR2-related Crouzon and Pfeiffer syndromes.
- Hydrocephalus and cerebellar tonsil ectopia (CTE) show a statistically significant association in this pediatric population.
Background:
Children with faciocraniosynostosis present skull base abnormalities and may develop hydrocephalus or cerebellar tonsils ectopia (CTE). Several pathophysiological hypotheses were formulated in the past decades to explain these associations. However, no study has described in a genetically homogeneous population with confirmed fibroblast growth factor receptor type 2 (FGFR2) mutation eventual correlations between skull base abnormalities and hydrocephalus or CTE.
Objective:
To illustrate these features in children <2 years of age with a genetically confirmed FGFR2-related faciocraniosynostosis.
Methods:
We measured the foramen magnum area (FMA) and its sagittal and transversal components: the right, left, and mean area of the jugular foramen; the posterior fossa volume; and the cerebellar volume on preoperative millimetric computed tomography scan slices in 31 children with an FGFR2 mutation (14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome). They were compared with 17 children without synostosis. All children were <24 months of age. We correlated all these measures with the presence of hydrocephalus or CTE.
Results:
We observed a significantly small FMA in children with Crouzon (P = .03) and in children with Pfeiffer (P = .05) resulting from a reduced sagittal diameter (P = .02 for Crouzon and P = .002 for Pfeiffer). Hydrocephalus was associated with small FMA (P = .02). The jugular foramen area, posterior fossa volume, and cerebellar volume were not associated with hydrocephalus or CTE. Hydrocephalus and CTE were statistically associated (P = .002).
Conclusion:
Hydrocephalus in FGFR2-related Crouzon and Pfeiffer syndromes is statistically associated with a small FMA. Hydrocephalus is statistically associated with CTE.
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