Facial morphology models for genetic syndrome diagnosis

Facial features help to differentiate many human genetic syndromes as the facial shape associated with a syndrome can be quite distinctive. However, their detection is still challenging due to the large number of known syndrome types and their similarities. We develop robust and fully automatic computational pipelines and statistical models to analyze facial morphology and to support clinical decision making processes based on 3D facial surface scans. To this end, we have developed a fully automatic landmarking approach for syndromic 3D facial surface scans that can be used as a pre-processing step in computer assisted genetic diagnosis systems. We, furthermore, work on novel generative 3D statistical models of syndromic facial shape that do not only provide diagnostic predictions, but also help to analyze facial morphological effects that are associated with each genetic syndrome in a systematic way.

aging modes
ageing female
Syndrome modes
modes
ssm random

Publications

Jordan J. Bannister, Sebastian Crites, David Aponte, David Katz, Matthias Wilms, Ophir Klein, Francois P.J. Bernier, Richard A. Spritz, Benedikt Hallgrímsson, Nils D. Forkert: Fully automatic landmarking of syndromic 3D facial surface scans using 2D images, Sensors, 20, 3171, 2020.

Benedikt Hallgrímsson, J. David Aponte, David C. Katz, Jordan J. Bannister, Sheri L. Riccardi, Nick Mahasuwan, Brenda L. McInnes, Tracey M. Ferrara, Danika M. Lipman, Amanda B. Neves, Jared A.J. Spitzmacher, Jacinda R. Larson, Gary A. Bellus, Anh M. Pham, Elias Aboujaoude, Timothy A. Benke, Kathryn C. Chatfield, Shanlee M. Davis, Ellen R. Elias, Robert W. Enzenauer, Brooke M. French, Laura L. Pickler, Joseph T.C. Shieh, Anne Slavotinek, A. Robertson Harrop, A. Micheil Innes, Shawn E. McCandless, Emily A. McCourt, Naomi J.L. Meeks, Nicole R. Tartaglia, Anne C.-H. Tsai, J. Patrick H. Wyse, Jonathan A. Bernstein, Pedro A. Sanchez-Lara, Nils D. Forkert, Francois P. Bernier, Richard A. Spritz, Ophir D. Klein: Automated syndrome diagnosis by three-dimensional facial imaging, Genetics in Medicine, 22(10), 1682-1693, 2020.

 

Team members

  • Jordan J. Bannister

  • Nils D. Forkert

  • Matthias Wilms