Exploring extracraniofacial anomalies in relation to facial morphology in craniofacial microsomia and microtia

Background Craniofacial microsomia (CFM) is associated with extracraniofacial anomalies, obstructive breathing, and feeding difficulties. This study aimed to explore whether patients with extracraniofacial anomalies, obstructive breathing, or feeding difficulties can be distinguished from patients without these anomalies or difficulties, based on their facial morphology. Methods This cross-sectional study used three-dimensional photographs and asymmetry index (ASI), facial signature (FS) scores, and principal components (PC) derived from FS scores to measure facial morphology. Univariate analyses were performed to assess significant differences in ASI, FS, and PC scores, as well as patient characteristics between patients with extracraniofacial anomalies, or feeding and/or breathing difficulties, and patients without these anomalies or difficulties. Multivariate logistic regression analyses were performed for both outcomes. Results Extracraniofacial anomalies were found in 84 (47%) out of 179 patients. In the multivariate analysis, the number of associated groups of craniofacial anomalies (OR 2.62 [95% CI 1.72–4.15]) and higher PC30 scores, depicting increasingly negative FS scores around the chin, maxilla, and inferior orbital rims (OR 1.06 [95% CI 1.01–1.11]) were significant independent predictors of extracraniofacial anomalies. For feeding and/or breathing difficulties, independent predictors were clefting (OR 6.45 [95% CI 2.72–16.05]), anomalies of the respiratory or gastrointestinal tracts (OR 7.63 [95% CI 2.33–28.06]), and lower PC34 scores (OR 0.91 [95% CI 0.84–0.97]), corresponding to increasingly positive FS scores of the inferior orbital rims and increasingly negative FS scores of the forehead. Conclusions Patients with extracraniofacial anomalies and patients with breathing or feeding difficulties had more severe facial phenotypes. Extracraniofacial anomalies were significantly and independently associated with morphological patterns possibly corresponding to bilateral orbital involvement and chin retrusion, as well as other associated craniofacial anomalies.