An Exploration of Craniofacial Features in Obstructive Sleep Apnea Using the Explainable Deep Learning Approaches

Purpose: Traditional craniofacial phenotyping of obstructive sleep apnea (OSA) relies on predefined anatomical hypotheses, often yielding incomplete assessments. This study aimed to apply multiple explainable deep learning (DL) approaches to explore novel craniofacial phenotypes. Patients and Methods: A multimodal DL model was trained using frontal and lateral facial images, lateral cephalograms, and demographic data from 130 participants (65 OSA patients diagnosed by overnight polysomnography, and 65 age- and sex-matched controls). Explainability analysis of the model’s prediction was conducted in a subset of 56 participants per group using average face analysis, feature importance analysis, and gradient-weighted class activation mapping (Grad-CAM). Targeted measurements were then performed on the identified non-traditional regions to validate morphological differences. Results: The model achieved an area under the curve of 0.87. The explainability analysis identified not only anatomical structures that have been confirmed to predict OSA (such as the mandible, chin, and hyoid regions), but also the middle and upper facial third (e.g. the forehead, eyebrows, and upper eyelids), which has not been fully emphasized in previous studies. Targeted measurements confirmed a significantly smaller inter-eyebrow distance, increased frontal protrusion ( p < 0.001) and frontal sinus area ( p < 0.001) in OSA patients. Conclusion: Explainable DL expanded OSA-related craniofacial phenotypes. Future studies are needed to validate these upper-face traits in larger cohorts and clarify their relevance to OSA subtyping and mechanisms.