Craniofacial Phenomics: Three-Dimensional Assessment of the Size and Shape of Cranial and Dentofacial Structures

Abstract

Craniofacial phenomics has opened up numerous opportunities to correlate genetic and epigenetic factors to craniofacial phenotypes in order to improve our understanding of growth and development in health and disease. Three-dimensional (3D) imaging has played a key role in advancing craniofacial phenomics by facilitating highly sensitive and specific characterizations of craniofacial and dental morphology. Here we describe the use of micro-computed tomography (micro-CT) to image the murine craniofacial complex, followed by surface reconstruction for traditional morphometric analyses. We also describe the application of geometric morphometrics, based on Generalized Procrustes Analysis, for use in human premolars. These principles are interchangeable between various vertebrate species, and between various surface imaging techniques (including micro-CT and 3D surface scanners), offering a high level of versatility and precision for extensive phenotyping of the entire craniofacial complex.

Craniofacial anomalies in a murine model of heterozygous fibroblast growth factor 10 gene mutation

“…(iii) maxillary height, significantly shorter maximum height (P = .011) (Figure 1C-F). Pairwise comparisons showed significantly smaller dimensions in the FGF10 +/− mice compared with wildtype for anterior length (P < .001) and posterior length (P = .002) in females, significantly TA B L E 1 Landmarks used in the craniofacial and dental morphometric analysis between FGF10 +/− and wildtype mice, as described earlier 18 (reproduced with permission from Springer Nature). (Table 2).…”

“…All landmarks were adopted as described earlier. 18 Quantitative analysis was carried out by comparing five linear dimensions for cranial vault, six for maxilla, eight for mandible, and three each for maxillary and mandibular first molars (Table 1 and Figures 1 and 2). One female mutant mouse with cranial suture defects was excluded from cranial vault assessment because of missing landmarks.…”

“…While our sample size was relatively small, it is in line with other studies of this nature and complies with guidelines for animal research. 19,24 Our analysis was limited to traditional (linear) morphometric methods, 18 and geometric morphometric methods will be needed to quantify the overall shape variation. 40 We did not analyse the maxillomandibular relationships, so definitive conclusions cannot be drawn on interarch relationships.…”

Investigating the dentoalveolar complex in archaeological human skull specimens: Additional findings with large volume micro‐CT compared to standard methods

“…The LV micro‐CT scanning system has been used in research for oral surgery (Beetge et al, 2018; Stan et al, 2019; Theye et al, 2018), biomedical (Grace et al, 2022; Kusins et al, 2019; Wearne et al, 2022) and medical research (Hutchinson et al, 2016; Kramer et al, 2019; Main et al, 2021; Smit et al, 2020; Tan et al, 2022; Welsh et al, 2020), paleontology (Clement et al, 2021), and forensic investigations (Alsop et al, 2022, Braun et al, 2022, Nikolova et al, 2019, Rutty et al, 2012). The non‐invasive nature of this type of micro‐CT scanner, as well as its technical capabilities, suggests that it could be of great value for the investigation of rare, delicate, and valuable archaeological human remains.…”

Large Volume Micro-CT scanning of the dentoalveolar complex as a tool to evaluate dental health in an archaeological sample compared with traditional methods

“…Large Volume Micro-CT scanning has previously been used for clinical research (3)(4)(5)(6), forensic investigations (7,8), and some research of archaeological bone samples including the skeleton of King Richard III of England (9)(10)(11)(12)(13). However, none of these cases have focused on the dentoalveolar complex in-situ in the skull.…”