Correlation analysis of airway-facial phenotype in Crouzon syndrome by geometric morphometrics: A promising method for non-radiation airway evaluation

• Published in: Orthodontics & craniofacial research 2024-06, Vol.27 (3), p.504-513
• Main Authors: Zhong, Yehong, Chen, Zhewei, Li, Binghang, Ma, Hengyuan, Yang, Bin
• Format: Article
• Language: English
• Subjects: Anatomic Landmarks; Anthropometry; Cephalometry - methods; Child; Child, Preschool; Correlation analysis; Craniofacial Dysostosis - diagnostic imaging; Crouzon syndrome; Face - anatomy & histology; Face - diagnostic imaging; Female; Genotype & phenotype; Geometric morphometrics; Humans; Imaging, Three-Dimensional - methods; Male; Morphology; Morphometry; Phenotype; Phenotypes; Phenotypic variations; Principal Component Analysis; Principal components analysis; Radiation; Respiratory tract; Statistical analysis
• ISSN: 1601-6335; 1601-6343
• DOI: 10.1111/ocr.12759

This study aimed to verify the correlation of the airway-facial phenotype and visualize the morphological variation in Crouzon syndrome patients. Additionally, to develop a non-radiation methodology for airway assessments. In this study, 22 patients diagnosed with Crouzon syndrome (Age: 7.80 ± 5.63 years; Gender distribution: 11 females and 11 males) were analysed. The soft tissue surface and airway were three-dimensionally reconstructed, and the entire facial phenotype was topologized and converted into spatial coordinates. Geometric morphometrics was employed to verify the correlation and visualize dynamic phenotypic variation associated with airway volume. A total of 276 linear variables were automatically derived from 24 anatomical landmarks, and principal component analysis (PCA) identified the 20 most significant parameters for airway evaluation. Correlation analyses between parameters and airway volume were performed. Then, patients were classified into three groups based on airway volume, and the differences among the groups were compared for evaluating the differentiating effectiveness of parameters. The facial phenotype was strongly correlated with the airway (coefficient: 0.758). Morphological variation was characterized by (i) mandibular protrusion and anticlockwise rotation; (ii) midface retrusion; (iii) supraorbital frontward and (iv) lengthening of the facial height. All the anthropometric parameters were strongly associated with the airway, and the differences among the groups were statistically significant. This study confirmed the strong correlation between facial phenotype and airway parameters in Crouzon syndrome patients. Despite the development of the airway, pathological midface retrusion was still aggravated, suggesting that surgical intervention was inevitable. Three-dimensional facial anthropometry has potential as a non-radiation examination for airway evaluation.