Craniofacial phenotyping is critical for both syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized genetic syndromes. Clinical reports, textbooks, and available software tools typically provide two-dimensional, static images and illustrations of the characteristic phenotypes of genetic syndromes. In this work, we provide an interactive web application that provides three-dimensional, dynamic visualizations for the characteristic craniofacial effects of 95 syndromes.
View Article and Find Full Text PDFObjectives: Diagnostic tools for voice disorders are lacking for primary care physicians. Artificial intelligence (AI) tools may add to the armamentarium for physicians, decreasing the time to diagnosis and limiting the burden of dysphonia.
Methods: Voice recordings of patients were collected from 2019 to 2021 using smartphones.