A Role for Artificial Intelligence in the Classification of Craniofacial Anomalies

Development of an objective algorithm to diagnose and assess craniofacial conditions has the potential to facilitate early diagnosis, especially for care providers with limited craniofacial expertise. Deep learning, a branch of artificial intelligence, can automatically analyze and categorize disease without human assistance. Convolutional neural networks (CNN) have excelled in utilizing medical images to automatically classify disease. In this study, the authors developed CNN models to detect and classify non-syndromic craniosynostosis (CS) using 2D images. The authors created an annotated data set of labeled CS (normal, metopic, sagittal, and unicoronal) conditions using standard clinical photography from the image repository at our center. The authors extended this dataset set by adding photographic images of children with craniofacial conditions from the internet. A total of 1076 images were used in this study. The authors developed a CNN model using a pre-trained ResNet-50 model to classify the data as metopic, sagittal, and unicoronal. The testing accuracy for the CS ResNet50 model achieved an overall testing accuracy of 90.6%. The sensitivity and precision were: 100% and 100% for metopic, 93.3% and 100% for sagittal, and 66.7% and 100% for unicoronal, respectively. The CNN model performed with promising accuracy. These results support the idea that deep learning has a role in diagnosis of craniofacial conditions. Using standard 2D clinical photography, such systems can provide automated screening and detection of these conditions. In the future, ML may be applied to prediction and assessment of surgical outcomes, or as an open-source remote diagnostic resource.