Communicated by Peter N. Robinson
The Facial Evolution: Looking Backward and Moving Forward
Article first published online: 2 NOV 2012
© 2012 WILEY PERIODICALS, INC.
Volume 34, Issue 1, pages 14–22, January 2013
How to Cite
Baynam, G., Walters, M., Claes, P., Kung, S., LeSouef, P., Dawkins, H., Gillett, D. and Goldblatt, J. (2013), The Facial Evolution: Looking Backward and Moving Forward. Hum. Mutat., 34: 14–22. doi: 10.1002/humu.22219
- Issue published online: 20 DEC 2012
- Article first published online: 2 NOV 2012
- Accepted manuscript online: 3 OCT 2012 03:35AM EST
- Manuscript Accepted: 30 AUG 2012
- Manuscript Received: 1 JUN 2012
- three dimensional;
- facial analysis;
- rare diseases;
Three-dimensional (3D) facial analysis is ideal for high-resolution, nonionizing, noninvasive objective, high-throughput phenotypic, and phenomic studies. It is a natural complement to (epi)genetic technologies to facilitate advances in the understanding of rare and common diseases. The face is uniquely reflective of the primordial tissues, and there is evidence supporting the application of 3D facial analysis to the investigation of variation and disease including studies showing that the face can reflect systemic health, provides diagnostic clues to disorders, and that facial variation reflects biological pathways. In addition, facial variation has been related to evolutionary factors. The purpose of this review is to look backward to suggest that knowledge of human evolution supports, and may instruct, the application and interpretation of studies of facial morphology for documentation of human variation and investigation of its relationships with health and disease. Furthermore, in the context of advances of deep phenotyping and data integration, to look forward to suggest approaches to scalable implementation of facial analysis, and to suggest avenues for future research and clinical application of this technology.