The Facial Evolution: Looking Backward and Moving Forward

Authors

  • Gareth Baynam,

    Corresponding author
    1. School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
    • Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia
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  • Mark Walters,

    1. Cranio-Maxillo-Facial Unit, Princess Margaret Hospital for Children, Perth, Australia
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  • Peter Claes,

    1. K.U. Leuven, Medical Imaging Research Centre, Faculty of Engineering, Leuven, Belgium
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  • Stefanie Kung,

    1. School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
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  • Peter LeSouef,

    1. School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
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  • Hugh Dawkins,

    1. Office of Population Health Genomics, Department of Health, Perth, Australia
    2. Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Australia
    3. School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia
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  • David Gillett,

    1. Cranio-Maxillo-Facial Unit, Princess Margaret Hospital for Children, Perth, Australia
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  • Jack Goldblatt

    1. Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia
    2. School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
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  • Communicated by Peter N. Robinson

Correspondence to: Gareth Baynam; University of Western Australia – Genetic Services of Western Australia, Genetics Services of Western Australia, KIng Edward Memorial Hospital Level 4 Agnes Walsh House 374, Bagot Rd Subiaco, WA, Perth 6008, Australia. E-Mail: Gareth.Baynam@health.wa.gov.au

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.

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