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A 3-Dimensional Morphable Model of the Apert Mandible.
Anoopama Ramjeeawon1,2, Lara S van de Lande1,2,3,4, Eimear O'Sullivan5
1UCL Great Ormond Street Institute of Child Health, University College London.
The Journal of Craniofacial Surgery
|June 1, 2026
Summary
Researchers developed 3D morphable models (3DMMs) for the Apert mandible, revealing age-related growth patterns. These models showed distinct Apert mandible shapes but no differences based on sex or genetic mutation.
Area of Science:
- Craniofacial morphology
- Medical imaging analysis
- Computational biology
Background:
- Apert syndrome frequently causes breathing issues due to craniofacial malformations.
- The Apert mandible's morphology and growth are not well understood.
- Three-dimensional morphable models (3DMMs) offer a quantitative approach to analyze complex shapes.
Purpose of the Study:
- To develop a 3DMM for the Apert mandible.
- To investigate the influence of age, sex, and genetic mutation on Apert mandibular shape.
- To characterize Apert mandibular growth patterns.
Main Methods:
- Constructed two Apert mandible 3DMMs (size/shape and shape-only) from 238 CT scans of 103 Apert syndrome patients.
- Utilized a standardized pipeline for 3DMM creation.
- Performed subgroup analyses for age groups 0-4 and 11-17 years.
Main Results:
- Successfully developed Apert mandible 3DMMs, correlating well with chronological age.
- Visualizations indicated macroscopic shape differences compared to healthy mandibles.
- No significant variations in mandibular shape were found related to sex or specific genetic mutations (Ser252Trp, Pro253Arg).
Conclusions:
- Apert mandible 3DMMs were successfully created and characterized by age-related growth.
- The models highlight distinct Apert mandibular morphology but show no sex or mutation-specific shape variations.
- Apert 3DMMs show promise for automated diagnosis and personalized surgical planning in Apert syndrome.
