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Cranial Bones: Lateral View

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The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
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Related Experiment Video

Updated: Jun 13, 2026

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

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Exploring a cherubism bone phenotype outside the craniofacial region.

Anne Morice^1,2, Philippe Drabent³, Sylvie Thomasseau⁴

¹Service de chirurgie maxillo-faciale et plastique de la face, CHRU de Tours, Hôpital Clocheville, Centre de compétence MAFACE et CRANIOST, Tours, 37044, France.

Orphanet Journal of Rare Diseases

|June 12, 2026

Summary

Cherubism, a rare bone disease, shows increased bone metabolism markers linked to its severity. This study assessed cherubism patients beyond the face, revealing insights into the condition's broader effects.

Keywords:

Blood markers Bone density Cherubism NFATc1

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Area of Science:

Genetics and Bone Biology
Paediatric Rare Diseases

Background:

Cherubism is a rare paediatric bone disease linked to SH3BP2 gene mutations.
Characterized by jaw osteolysis and fibrous tissue replacement.
A recent case suggested a potential low bone mass phenotype beyond craniofacial features.

Purpose of the Study:

To investigate the broader cherubism phenotype outside the craniofacial region.
To systematically assess bone density, growth, and blood markers in cherubism patients.
To correlate these findings with radiological and NFATc1 classifications.

Main Methods:

Systematic assessment of ten cherubism patients.
Evaluation of inflammatory and bone blood markers (CTx, P1NP).
Measurement of bone density, height, and weight.
Correlation with radiological and NFATc1 location classifications.

Main Results:

Patients exhibited normal weight and height.
A significant increase in bone metabolism blood markers (CTx, P1NP) was observed.
Elevated markers correlated with the severity of cherubism.

Conclusions:

Cherubism may involve systemic bone metabolism alterations.
Increased bone turnover markers are associated with cherubism severity.
Systematic, comprehensive assessments are crucial for understanding cherubism's natural history.