title: The facial evolution: looking backward and moving forward.
abstract: 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.
authors.affiliation: Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.forename: Mark
authors.initials: M
authors.lastname: Walters
authors.forename: Peter
authors.initials: P
authors.lastname: Claes
authors.forename: Stefanie
authors.initials: S
authors.lastname: Kung
authors.forename: Peter
authors.initials: P
authors.lastname: LeSouef
authors.forename: Hugh
authors.initials: H
authors.lastname: Dawkins
authors.forename: David
authors.initials: D
authors.lastname: Gillett
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
mesh_terms: D000886:Anthropometry / Q000295:instrumentation / Q000379:methods; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005145:Face / Q000033:anatomy & histology*; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods* / Q000639:trends; D021621:Imaging, Three-Dimensional / Q000379:methods* / Q000639:trends; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity