Cranial base and midfacial morphology in pfeiffer syndrome: A 3D quantitative analysis

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.

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.

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.

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.