scholarly journals Wnt Signaling Drives Correlated Changes in Facial Morphology and Brain Shape

2021 ◽  
Vol 9 ◽  
Author(s):  
Marta Marchini ◽  
Diane Hu ◽  
Lucas Lo Vercio ◽  
Nathan M. Young ◽  
Nils D. Forkert ◽  
...  
Keyword(s):  
Wnt Signaling ◽  
Three Dimensional ◽  
Facial Morphology ◽  
Ontogenetic Changes ◽  
Expression Domain ◽  
Head Development ◽  
Facial Shape ◽  
Close Relationship ◽  
The Face ◽  
Canonical Wnt

Canonical Wnt signaling plays multiple roles critical to normal craniofacial development while its dysregulation is known to be involved in structural birth defects of the face. However, when and how Wnt signaling influences phenotypic variation, including those associated with disease, remains unclear. One potential mechanism is via Wnt signaling’s role in the patterning of an early facial signaling center, the frontonasal ectodermal zone (FEZ), and its subsequent regulation of early facial morphogenesis. For example, Wnt signaling may directly alter the shape and/or magnitude of expression of the sonic hedgehog (SHH) domain in the FEZ. To test this idea, we used a replication-competent avian sarcoma retrovirus (RCAS) encoding Wnt3a to modulate its expression in the facial mesenchyme. We then quantified and compared ontogenetic changes in treated to untreated embryos in the three-dimensional (3D) shape of both the SHH expression domain of the FEZ, and the morphology of the facial primordia and brain using iodine-contrast microcomputed tomography imaging and 3D geometric morphometrics (3DGM). We found that increased Wnt3a expression in early stages of head development produces correlated variation in shape between both structural and signaling levels of analysis. In addition, altered Wnt3a activation disrupted the integration between the forebrain and other neural tube derivatives. These results show that activation of Wnt signaling influences facial shape through its impact on the forebrain and SHH expression in the FEZ, and highlights the close relationship between morphogenesis of the forebrain and midface.

scholarly journals The Association between Facial Morphology and Cold Pattern

2021 ◽  
Vol 42 (4) ◽  
pp. 113-129
Author(s):  
Ilkoo Ahn ◽  
Kwang-Ho Bae ◽  
Hee-Jeong Jin ◽  
Siwoo Lee
Keyword(s):  
Morphological Features ◽  
Facial Morphology ◽  
Sensory Organs ◽  
Negatively Associated ◽  
East Asian Medicine ◽  
Center Point ◽  
Facial Shape ◽  
Asian Medicine ◽  
The Face ◽  
Analysis System

Objectives: Facial diagnosis is an important part of clinical diagnosis in traditional East Asian Medicine. In this paper, using a fully automated facial shape analysis system, we show that facial morphological features are associated with cold pattern.Methods: The facial morphological features calculated from 68 facial landmarks included the angles, areas, and distances between the landmark points of each part of the face. Cold pattern severity was determined using a questionnaire and the cold pattern scores (CPS) were used for analysis. The association between facial features and CPS was calculated using Pearson's correlation coefficient and partial correlation coefficients.Results: The upper chin width and the lower chin width were negatively associated with CPS. The distance from the center point to the middle jaw and the distance from the center point to the lower jaw were negatively associated with CPS. The angle of the face outline near the ear and the angle of the chin line were positively associated with CPS. The area of the upper part of the face and the area of the face except the sensory organs were negatively associated with CPS. The number of facial morphological features that exhibited a statistically significant correlation with CPS was 37 (unadjusted).Conclusions: In this study of a Korean population, subjects with a high CPS had a more pointed chin, longer face, more angular jaw, higher eyes, and more upward corners of the mouth, and their facial sensory organs were relatively widespread.

scholarly journals Knocking-out the human face genes TBX15 and PAX1 in mice alters facial and other physical morphology

2021 ◽  
Author(s):  
Yu Qian ◽  
ziyi Xiong ◽  
Yi Li ◽  
haibo Zhou ◽  
Manfred Kayser ◽  
...  
Keyword(s):  
Association Studies ◽  
Three Dimensional ◽  
Mutant Mice ◽  
Genome Wide Association Studies ◽  
Facial Morphology ◽  
Morphological Alterations ◽  
Functional Roles ◽  
Adult Mice ◽  
Phenotype Analysis ◽  
The Face

DNA variants in or closed to the human TBX15 and PAX1 genes have been repeatedly associated with facial morphology in independent genome-wide association studies, while their functional roles in determining facial morphology remains to be understood. We generated Tbx15 knockout ( Tbx15 -/- ) and Pax1 knockout ( Pax1 -/- ) mice by applying the one-step CRISPR/Cas9 method. A total of 75 adult mice were used for subsequent phenotype analysis, including 38 Tbx15 mice (10 homozygous Tbx15 -/- , 18 heterozygous Tbx15 +/- , 10 wild-type WT) and 37 Pax1 mice (12 homozygous Pax1 -/- , 15 heterozygous Pax1 +/- , 10 WT mice). Facial and other physical morphological phenotypes were obtained from three-dimensional (3D) images acquired with the HandySCAN BLACK scanner. Compared to WT mice, the Tbx15 -/- mutant mice had significantly shorter faces ( P =1.08E-8, R2=0.61) and their ears were in a significantly lower position ( P =3.54E-8, R2=0.62) manifesting an “ear dropping” characteristic. Besides these face alternations, Tbx15 -/- mutant mice displayed significantly lower weight as well as shorter body and limb length. Pax1 -/- mutant mice showed significantly longer noses ( P =1.14E-5, R2=0.46) relative to WT mice, but otherwise displayed less obvious morphological alterations than Tbx15 -/- mutant mice did. Because the Tbx15 and Pax1 effects on facial morphology we revealed here in mice are largely consistent with previously reported TBX15 and PAX1 face associations in humans, we suggest that the functional role these two genes play on determining the face of mice is similar to the functional impact their human homologues have on the face of humans.

scholarly journals Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Harold S. Matthews ◽  
Richard L. Palmer ◽  
Gareth S. Baynam ◽  
Oliver W. Quarrell ◽  
Ophir D. Klein ◽  
...  
Keyword(s):  
Open Source ◽  
Clinical Diagnosis ◽  
Large Scale ◽  
Three Dimensional ◽  
Growth Curves ◽  
Facial Dysmorphism ◽  
Facial Morphology ◽  
Craniofacial Dysmorphism ◽  
Facial Shape ◽  
The Rich

AbstractCraniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the disorder. Abnormal facial shape might require craniofacial surgical intervention, with the restoration of normal shape an important surgical outcome. Facial anthropometric growth curves or standards of single inter-landmark measurements have traditionally supported assessments of normal and abnormal facial shape, for both clinical and research applications. However, these fail to capture the full complexity of facial shape. With the increasing availability of 3D photographs, methods of assessment that take advantage of the rich information contained in such images are needed. In this article we derive and present open-source three-dimensional (3D) growth curves of the human face. These are sequences of age and sex-specific expected 3D facial shapes and statistical models of the variation around the expected shape, derived from 5443 3D images. We demonstrate the use of these growth curves for assessing patients and show that they identify normal and abnormal facial morphology independent from age-specific facial features. 3D growth curves can facilitate use of state-of-the-art 3D facial shape assessment by the broader clinical and biomedical research community. This advance in phenotype description will support clinical diagnosis and the understanding of disease pathogenesis including genotype–phenotype relations.

scholarly journals Development of Monitoring System for Facial Shape and Skin Color Using Depth Camera mounted on a Smartphone

2020 ◽  
Vol 2020 (28) ◽  
pp. 119-124
Author(s):  
Ikumi Nomura ◽  
Reimei Koike ◽  
Naoaki Rikihisa ◽  
Nobuyuki Mitsukawa ◽  
Norimichi Tsumura
Keyword(s):  
Skin Color ◽  
Three Dimensional ◽  
Aesthetic Surgery ◽  
Depth Camera ◽  
Depth Sensor ◽  
Face Shape ◽  
Illumination Direction ◽  
Facial Shape ◽  
Before And After ◽  
The Face

Regular observation and recording of the changes in body appearance are essential for the process of the treatment of plastic surgery and dermatology, especially aesthetic surgery. Usually, physicians treat patients with medical interviews, pictures of the patient's faces before and after their treatment, anatomical data that including size, location, and color of the affected skin. However, it is difficult to capture the affected area under the same conditions every time because the captured range varies depending on the imaging angle and distance. There is a need to record three-dimensional shape of face parts such as cheek, nose, eye, and chin. Therefore, in this study, the face shape and the skin color were measured using the infrared depth camera and the RGB camera built in the smartphone three-dimensionally. We measured before and after modulating the shape and color of the face, and then, the change in volume and the change in skin pigment of skin color was calculated and visualized. This method makes it possible to analyze the skin shape and color independently of the viewing angle and the illumination direction. In this study, the depth sensor built in the smartphone showed the potential to monitor changes in facial shape and skin color. In the future, it is expected to contribute to the development of telemedicine, in which the patient measures their face at home and gets medical treatment consultation remotely.

scholarly journals Application of Digital Anthropometry for Craniofacial Assessment

2014 ◽  
Vol 7 (2) ◽  
pp. 101-107 ◽  
Author(s):  
Yasas S. N. Jayaratne ◽  
Roger A. Zwahlen
Keyword(s):  
Phenotypic Variation ◽  
Three Dimensional ◽  
Clinical Applications ◽  
Facial Morphology ◽  
3D Image ◽  
Specialized Software ◽  
The Face ◽  
Digital Measurements ◽  
Broad Overview

Craniofacial anthropometry is an objective technique based on a series of measurements and proportions, which facilitate the characterization of phenotypic variation and quantification of dysmorphology. With the introduction of stereophotography, it is possible to acquire a lifelike three-dimensional (3D) image of the face with natural color and texture. Most of the traditional anthropometric landmarks can be identified on these 3D photographs using specialized software. Therefore, it has become possible to compute new digital measurements, which were not feasible with traditional instruments. The term “digital anthropometry” has been used by researchers based on such systems to separate their methods from conventional manual measurements. Anthropometry has been traditionally used as a research tool. With the advent of digital anthropometry, this technique can be employed in several disciplines as a noninvasive tool for quantifying facial morphology. The aim of this review is to provide a broad overview of digital anthropometry and discuss its clinical applications.

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