Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis
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Published on: September 8, 2023
Lantian Zheng1, Norli Anida Abdullah2, Norlisah Mohd Ramli3
1Department of Oral and Maxillofacial Clinical Sciences, Faculty of Dentistry, Universiti Malaya, Malaysia.
Insights
Pfeiffer syndrome causes significant craniofacial deformities, especially in infants, impacting sphenoid bone growth and midfacial structures. Early surgical intervention is vital for improving outcomes in patients with Pfeiffer syndrome.
Area of Science:
- Craniofacial surgery
- Pediatric genetics
- 3D morphometrics
Background:
- Pfeiffer syndrome presents craniosynostosis, midfacial hypoplasia, and ocular proptosis, requiring complex surgical management.
- Limited evidence exists on craniofacial morphology and growth patterns in Pfeiffer syndrome patients.
- This study addresses the need for comprehensive analysis of cranial base and midfacial development in Pfeiffer syndrome.
Purpose of the Study:
- To analyze cranial base and midfacial morphology in Pfeiffer syndrome patients.
- To investigate growth patterns associated with Pfeiffer syndrome.
- To identify key craniofacial deformities in Pfeiffer syndrome.
Main Methods:
- Retrospective analysis of 12 CT scans from Pfeiffer syndrome patients and 10 controls.
- Utilized high-quality 3D morphometric analyses to measure cranial base and midface landmarks.
- Employed Mann-Whitney U test for statistical comparison of deviations.
Main Results:
- Significant craniofacial deformities observed in Pfeiffer syndrome, particularly within the first year.
- Shortened middle cranial fossa and cranial base kyphosis noted.
- Sphenoid bone, maxilla, and zygoma showed restricted growth and shortening, with midfacial retrusion.
Conclusions:
- Sphenoid bone abnormalities significantly impact midfacial morphology and function in Pfeiffer syndrome.
- Maxilla-zygomatic-orbit complex deformities result from localized underdevelopment.
- Early, precise surgical interventions are crucial for improved prognosis in Pfeiffer syndrome.
Introduction:
Pfeiffer syndrome is characterized by craniosynostosis, midfacial hypoplasia, and severe ocular proptosis, with complex surgical management and a high risk of relapse. Despite recent advances in surgical techniques and multidisciplinary care, evidence on the craniofacial morphology and growth patterns remains limited. This study aims to provide a comprehensive analysis of cranial base and midfacial morphology and growth pattern in patients with Pfeiffer syndrome.
Material And Methods:
Twelve CT scans from patients with Pfeiffer syndrome and ten age-matched controls were retrospectively accessed for research purposes between 01/11/2015 and 31/12/ 2023. Using high-quality 3D morphometric analyses, various cranial base and midface landmarks were measured. The data were analyzed using Mann-Whitney U test to compare the deviations.
Results:
The study revealed significant craniofacial deformities in Pfeiffer syndrome, particularly within the first year of life. There was a shortening in the middle cranial fossa and a tendency towards cranial base kyphosis. The deformity of sphenoid bone involved in body and pterygoid plates exhibited restricted growth in anteroposterior, sagittal, and transverse directions. The lengths of the maxilla, zygoma and plate were shortened. There was more retrusion in the orbital floor and zygoma compared to the rest of the midface.
Discussion:
The developmental abnormalities of the sphenoid bone have a massive impact on the overall midfacial morphology and function. The maxilla-zygomatic-orbit complex deformities are characterized by localized underdevelopment rather than uniform growth deficiency. Early and precise surgical interventions and improved surgical methods are crucial for better prognosis.
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