A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis

• Published in: IEEE journal of biomedical and health informatics Vol. 26; no. 7; pp. 3229 - 3239
• Main Authors: Bannister, Jordan J., Wilms, Matthias, Aponte, J. David, Katz, David C., Klein, Ophir D., Bernier, Francois P. J., Spritz, Richard A., Hallgrimsson, Benedikt, Forkert, Nils D.
• Format: Journal Article
• Language: English
• Published: United States IEEE 01.07.2022; The Institute of Electrical and Electronics Engineers, Inc. (IEEE)
• Subjects: 3D shape model; Data models; Deep learning; Demographic variables; Diagnosis; Diagnosis, Computer-Assisted - methods; Disorders; Face - diagnostic imaging; Genetic syndrome; Genetics; Humans; interpretable machine learning; Medical diagnosis; Morphology; normalizing flow; Shape; Solid modeling; Surface morphology; Three dimensional models; Three-dimensional displays

One of the primary difficulties in treating patients with genetic syndromes is diagnosing their condition. Many syndromes are associated with characteristic facial features that can be imaged and utilized by computer-assisted diagnosis systems. In this work, we develop a novel 3D facial surface mode...