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Craniofacial shape in patients with beta thalassaemia: a geometric morphometric analysis
Petros Roussos1, Anastasia Mitsea2, Demetrios Halazonetis1
1Department of Orthodontics, School of Dentistry, National and Kapodistrian University of Athens, 2, Thivon Str., 11527, Athens, Greece.
Scientific Reports
|January 19, 2021
Summary
Beta thalassaemia significantly alters craniofacial shape, affecting the maxilla, mandible, and cranial base. Patients exhibit a more convex and hyperdivergent facial profile compared to controls.
Area of Science:
- Medical Imaging
- Orthodontics
- Genetics
Background:
- Beta thalassaemia is a genetic blood disorder impacting red blood cell production.
- Craniofacial abnormalities are recognized complications in beta thalassaemia patients.
- Geometric morphometrics offers advanced tools for analyzing complex shapes.
Purpose of the Study:
- To investigate and quantify craniofacial shape differences in beta thalassaemia patients.
- To compare the craniofacial morphology of beta thalassaemia patients with healthy controls.
- To identify specific areas of the craniofacial complex most affected by the condition.
Main Methods:
- Utilized geometric morphometrics on lateral cephalometric radiographs.
- Analyzed 120 radiographs from 40 beta thalassaemia patients and 80 matched controls.
- Applied Procrustes superimposition and principal component analysis to landmark data.
Main Results:
- Significant overall craniofacial shape differences were observed between beta thalassaemia patients and controls in both sexes.
- Specific alterations include a smaller mandibular body, midface protrusion, and reduced posterior face height.
- The craniofacial complex in beta thalassaemia is characterized by increased convexity and hyperdivergence.
Conclusions:
- Beta thalassaemia is associated with distinct craniofacial morphological changes.
- Geometric morphometrics effectively highlights these shape variations.
- Findings provide insights into the skeletal manifestations of beta thalassaemia.

