Large-scale objective phenotyping of 3D facial morphology

Abstract

Abnormal phenotypes have played significant roles in the discovery of gene function, but organized collection of phenotype data has been overshadowed by developments in sequencing technology. In order to study phenotypes systematically, large-scale projects with standardized objective assessment across populations are considered necessary. The report of the 2006 Human Variome Project meeting recommended documentation of phenotypes through electronic means by collaborative groups of computational scientists and clinicians using standard, structured descriptions of disease-specific phenotypes. In this report, we describe progress over the past decade in 3D digital imaging and shape analysis of the face, and future prospects for large-scale facial phenotyping. Illustrative examples are given throughout using a collection of 1107 3D face images of healthy controls and individuals with a range of genetic conditions involving facial dysmorphism.

Comparative analysis of facial morphology between Okinawa Islanders and mainland Japanese using three‐dimensional images

“…Therefore, more detailed 3D morphological analyses utilizing a large number of surface points are required to fully grasp the differences in facial features of individuals and populations. One of the solutions will be to apply homologous modeling in which semi-landmarks homologous among different faces are generated (Cheung et al, 2011;Hammond and Suttie 2012;Luximon et al, 2012). Such analysis of complicated 3D facial shapes will contribute to future studies on facial variation not only in anthropology but also in other scientific fields such as genetics, developmental biology, cognitive science, and human 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 Table 2.…”

Three-dimensional human facial morphologies as robust aging markers

“…With the recent development of three-dimensional (3D) imaging technology, such as the widely used stereo photogrammetric camera system 3dMDface System (www.3dmd.com), and methods to reconstruct 3D images with single-pixel detectors [5], 3D facial data are now used in many fields, such as disease diagnosis and facial morphology comparison between ethnic populations [6][7][8]. For example, it has been extensively used to recognize many dysmorphic syndromes, such as Noonan syndrome, Velocardiofacial syndrome, Williams syndrome, Smith-Magenis syndrome, 22q11 deletion syndrome, Fabry disease, autism spectrum disorders and Wolf-Hirschhorn syndrome [9].…”

Craniofacial characteristics of fragile X syndrome in mouse and man

“…20 Further technical details are provided as supplementary information and elsewhere. 15 All signature graphs were drawn using the Graphviz software. 21 …”

“…In the human study, we also included a small set of premutation carriers, as data were unavailable on the effect of premutation sized repeats on craniofacial development. We employed dense-surface model (DSM) analysis 13,14 and novel signature graph 15 techniques to both human and animal data to confirm known and detect previously unidentified features.…”