The face is an integral part of one’s self-concept and unquestionably the most important attribute used to distinguish one's identity. A growing body of literature demonstrates that any condition that results in facial disfigurement can have a profound adverse impact on one's psychological and social functioning. In this respect, patients with facial disfigurements are at higher risk to experience psychosocial difficulties than others. Owing to injuries or illnesses such as cancer, patients undergo reconstructive surgeries both to recover their facial function and to reduce the adverse impact of facial disfigurements on their psychosocial functioning. However, since surgical planning and evaluation of reconstructive outcomes still relies heavily on surgeons' qualitative assessments, it is challenging to measure surgery outcomes and, therefore, difficult to improve surgical practice. Thus, this dissertation research aims to help patients suffering from facial disfigurement by developing quantitative measures that are 1) related to human perception of faces, and 2) that account for patient's internal status (i.e., psychosocial functioning). Such measures can be used to improve surgical practice and assist patients with disfigurement to be psychosocially adjusted. Specifically, this dissertation proposes quantitative measures of facial morphology and expression that are closely related to overall facial attractiveness and a patient's psychosocial functioning. Such measures will allow surgeons to quantitatively plan and evaluate reconstructive surgeries. In addition, this dissertation introduces a modeling technique to simulate disfigurement on novel faces with control on the type, location, and severity of disfigurement. This modeling technique is important since it can help patients with facial disfigurement gain a more accurate understanding of how they are viewed in society, which has a strong potential to facilitate their psychosocial adjustment. This dissertation provides a new perspective on how to help patients with facial disfigurement address challenging problems in facial reconstruction, aesthetic understanding, and psychosocial actualization. It is hoped that this work has shown that multiple benefits could be realized from future studies utilizing the modeling technique to understand human perception of facial disfigurement and thereby to develop quantitative measures that are closely associated with human perception. / text

Indiana University-Purdue University Indianapolis (IUPUI) / The biological underpinnings that control iris pigmentation and facial morphology are two areas of research that over the last decade are becoming more thoroughly investigated due to the increased affordability of genotyping and advances in technology allowing for more advanced analysis techniques. Despite the ease of access to the data and the tools required to perform iris pigmentation and facial morphological studies, there are still numerous challenges researchers must overcome when exploring the genetics of these complex phenotypes. Some of these challenges include difficulty in working with the bioinformatic programs designed to analyze genetic associations, the inability to define a phenotype that captures the true nature of these traits, and analysis techniques that fail to model complex gene-gene interactions and their effect on a phenotype or phenotypes of interest. In this body of work, I attempted to address these challenges by designing a bioinformatic pipeline, Odyssey, that bridges the communication gaps between various data preparation programs and the programs that analyze genomic data. With this program, genome-wide association studies (GWAS) could be conducted in a quicker, more efficient, and easier manner. I also redefined iris color as a quantitative measurement of pre-defined color classes. In this way it is possible to define and quantify the unique and intricate mixtures of color, which allows for the identification of known and novel variants that affect individual iris color. I also improved upon current prediction models by developing a neural network model capable of predicting a quantitative output to four pre-defined classes; blue/grey, light brown (hazel), perceived green, and dark brown. I examined the effects of defining a simple facial morphology phenotype that more accurately captures the lower face and jaw shape. I then analyzed this phenotype via a GWAS and found several novel variants that may be associated with a square and diamond shaped face. Lastly, I demonstrated that structural equation modeling can be used in combination with traditional GWAS to examine interactions amongst associated variants, which unearths potential biological relationships that impact the multifaceted phenotype of facial morphology.

<div>The biological underpinnings that control iris pigmentation and facial morphology are two areas of research that over the last decade are becoming more thoroughly investigated due to the increased affordability of genotyping and advances in technology allowing for more advanced analysis techniques. Despite the ease of access to the data and the tools required to perform iris pigmentation and facial morphological studies, there are still numerous challenges researchers must overcome when exploring the genetics of these complex phenotypes. Some of these challenges include difficulty in working with the bioinformatic programs designed to analyze genetic associations, the inability to define a phenotype that captures the true nature of these traits, and analysis techniques that fail to model complex gene-gene interactions and their effect on a phenotype or phenotypes of interest.</div><div><br></div><div>In this body of work, I attempted to address these challenges by designing a bioinformatic pipeline, Odyssey, that bridges the communication gaps between various data preparation programs and the programs that analyze genomic data. With this program, genome-wide association studies (GWAS) could be conducted in a quicker, more efficient, and easier manner. I also redefined iris color as a quantitative measurement of pre-defined color classes. In this way it is possible to define and quantify the unique and intricate mixtures of color, which allows for the identification of known and novel variants that affect individual iris color. I also improved upon current prediction models by developing a neural network model capable of predicting a quantitative output to four pre-defined classes; blue/grey, light brown (hazel), perceived green, and dark brown. I examined the effects of defining a simple facial morphology phenotype that more accurately captures the lower face and jaw shape. I then analyzed this phenotype via a GWAS and found several novel variants that may be associated with a square and diamond shaped face. Lastly, I demonstrated that structural equation modeling can be used in combination with traditional GWAS to examine interactions amongst associated variants, which unearths potential biological relationships that impact the multifaceted phenotype of facial morphology.</div>

Existing evidence shows people are able to attribute an individual's behavioural characteristics based on their facial features with a certain level of accuracy; one such characteristic is the perception of physical strength in potential opponents within the male intersexual competition. Physical strength seems be assessed upon the level of masculine facial features development. However, attributions may be influenced by other factors - namely personality traits of the evaluator or the so-called Other-race effect. In this study portrait photographs of men from Europe and Africa were rated by a group of European evaluators on a perceived physical strength. The aim of this study was to assess the link between attributed physical strength, actual physical strength (grip strength) and facial morphology described by relative facial width (fWHR) the Index of Masculinity (potential effects of age, body weight and height on said variables were controlled for). The use of stimuli of different ethnic origin enabled us to test the accuracy of physical strength attributions and actual physical strength in context to the Other-race effect hypothesis. According to its wording people tend to attribute characteristics with higher accuracy to individuals, who belong to the same population, or with whom they are...

The presented thesis summarizes the results of research on craniofacial morphology in patients with facial cleft defects in relation to therapeutic approaches (Caganova et al., 2014; Dadáková et al., 2016; Hoffmannova et al., 2016; Hoffmannova et al., 2018; Moslerová et al., 2018). The effect of therapy in individuals with pathological growth disorders cannot be evaluated without detailed auxological studies of control subjects whose facial morphology, longitudinal changes, or manifestations of sexual dimorphism were evaluated upon similar methodology (Koudelová et al. 2015). Therefore, the thesis was conceived as a volume of six publications complemented with a general synthetic introduction into the area of study. Together, the thesis includes probands in a broad age spectrum from birth to 15 years with a total of 294 facial 3D scans, 36 tele-X-ray face images, 3D scans of 112 gypsum palate castings. The methods of geometric morphometry and multidimensional statistics prevail in the assessment. The main clinical part of the thesis deals with the influence of two types of surgery on the facial growth and development of patients with cleft palate, namely secondary spongioplasty (SS) and neonatal cheiloplasty (NCH). Neonatal cheiloplasty (NCH) is the surgery whose effects were studied from several...