The normal-equivalent: a patient-specific assessment of facial harmony

Claes, Peter; Walters, Mark; Gillett, David; Vandermeulen, Dirk; Clement, John G.; Suetens, Paul

doi:10.1016/j.ijom.2013.03.011

Cited by 14 publications

(19 citation statements)

References 23 publications

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“…In contrast to facial shape description by measurements between manually indicated biological landmarks, the use of thousands of spatially dense quasi-landmarks provides a comprehensive coverage and therefore a more complete description of shapes. Consequently, also very subtle features and anatomical regions without obvious biological landmarks can be defined (Claes, Walters, et al 2013).…”

Section: Discussionmentioning

confidence: 99%

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

et al. 2017

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The 22q11.2 deletion syndrome (22q11.2DS) is one of the most frequent microdeletion syndromes and presents with a highly variable phenotype. In most affected individuals, specific but subtle facial features can be seen. In this observational study, we aim to investigate the craniofacial and dental features of 20 children with a confirmed diagnosis of 22q11.2DS by analyzing 3-dimensional (3D) facial surface scans, 2-dimensional (2D) clinical photographs, panoramic and cephalometric radiographs, and dental casts. The 3D facial scans were compared to scans of a healthy control group and analyzed using a spatially dense geometric morphometric approach. Cephalometric radiographs were digitally traced, and measurements were compared to existing standards. Occlusal and dental features were studied on dental casts and panoramic radiographs. Interestingly, a general trend of facial hypoplasia in the lower part of the face could be evidenced with the 3D facial analysis in children with 22q11.2DS compared to controls. Cephalometric analysis confirmed a dorsal position of the mandible to the maxilla in 2D and showed an enlarged cranial base angle. Measurements for occlusion did not differ significantly from standards. Despite individual variability, we observed a retruded lower part of the face as a common feature, and we also found a significantly higher prevalence of tooth agenesis in our cohort of 20 children with 22q11.2DS (20%). Furthermore, 3D facial surface scanning proved to be an important noninvasive, diagnostic tool to investigate external features and the underlying skeletal pattern.

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Section: Discussionmentioning

confidence: 99%

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

et al. 2017

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“…The main advantage of spatially denser set of landmarks is that they provide more coverage and therefore a fuller description of shapes [68]. The challenge however is that the number of shape variables almost always exceeds the number of observations leading to theoretical limitations on the use of some statistical methods [69].…”

Section: Phenotypingmentioning

confidence: 99%

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

Roosenboom

Hens

Mattern

et al. 2016

BioMed Research International

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The craniofacial complex is the billboard of sorts containing information about sex, health, ancestry, kinship, genes, and environment. A thorough knowledge of the genes underlying craniofacial morphology is fundamental to understanding craniofacial biology and evolution. These genes can also provide an important foundation for practical efforts like predicting faces from DNA and phenotype-based facial diagnostics. In this work, we focus on the various sources of knowledge regarding the genes that affect patterns of craniofacial development. Although tremendous successes recently have been made using these sources in both methodology and biology, many challenges remain. Primary among these are precise phenotyping techniques and efficient modeling methods.

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“…While Claes et al (21) and Walters et al (22) applied a SSM of unaffected subjects on pronounced and clearly statistical defined shape abnormalities to define a normal equivalent, their approach was not feasible in the present situation of FAI, which represents a morphology in the statistical range of normality, making the region an unreliable predictor, hence its exclusion. The cam-morphology is highly prevalent in the general population and, as previously mentioned, is not well defined.…”

Section: Discussionmentioning

confidence: 94%