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.

Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge

“…Therefore, collaboration not only between but also within institutes (e.g. between medical doctors, fundamental scientists, engineers, statisticians, and informaticians) is indispensable [76]. …”

Toward DNA-based facial composites: Preliminary results and validation

“…In theory, a DNA-based facial composite should be possible given the compelling evidence that facial features are under strong genetic control [15]. Such evidence includes remarkable facial similarity between identical twins [16], clear facial resemblances within families, distinctive facial features associated with particular genetic conditions [17,18], and facial similarities within geographic populations [19] and within the sexes [20]. This suggests that inter-individual variation in facial morphology is, in most cases, primarily determined by genetic variation.…”

Quantitative three‐dimensional assessment of port‐wine stain clearance after laser treatments

“…However, a quantitative assessment of the PWS clearance rate, in terms of area and volume reduction after laser treatment, has not previously been published. Threedimensional facial analysis is ideal for high resolution, non-ionizing, non-invasive, objective, high throughput phenotypic, and phenomic studies [17]. The 3dMD cameras and software capture detailed 3D surface shapes (face, cheek, ear, etc.)…”