Improving the Reliability of Scale-Free Image Morphometrics in Applications with Minimally Restrained Livestock Using Projective Geometry and Unsupervised Machine Learning.

Advances in neural networks have garnered growing interest in applications of machine vision in livestock management, but simpler landmark-based approaches suitable for small, early stage exploratory studies still represent a critical stepping stone towards these more sophisticated analyses. While such approaches are well-validated for calibrated images, the practical limitations of such imaging systems restrict their applicability in working farm environments. The aim of this study was to validate novel algorithmic approaches to improving the reliability of scale-free image biometrics acquired from uncalibrated images of minimally restrained livestock. Using a database of 551 facial images acquired from 108 dairy cows, we demonstrate that, using a simple geometric projection-based approach to metric extraction, a priori knowledge may be leveraged to produce more intuitive and reliable morphometric measurements than conventional informationally complete Euclidean distance matrix analysis. Where uncontrolled variations in image annotation, camera position, and animal pose could not be fully controlled through the design of morphometrics, we further demonstrate how modern unsupervised machine learning tools may be used to leverage the systematic error structures created by such lurking variables in order to generate bias correction terms that may subsequently be used to improve the reliability of downstream statistical analyses and dimension reduction.

[A method for constructing three-dimensional face symmetry reference plane based on weighted shape analysis algorithm].

OBJECTIVE: To establish a novel method based on three-dimensional (3D) shape analysis and weighted Procrustes analysis (WPA) algorithm to construct a 3D facial symmetry reference plane (SRP), automatically assigning weight to facial anatomical landmarks. The WPA algorithm suitability for commonly observed clinical cases of mandibular deviation were analysed and evaluated. METHODS: Thirty patients with mandibular deviation were recruited for this study. The 3D facial SRPs were extracted independently based on original-mirror alignment method. Thirty-two anatomical landmarks were selected from the overall region by three times to obtain the mean coordinate. The SRP of experimental groups 1 and 2 were using the standard Procrustes analysis (PA) algorithm and WPA algorithm, respectively. A reference plane defined by experts based on regional iterative closest point (ICP) algorithm, served as the ground truth. Three experts manually selecting facial regions with good symmetry for original model, and common region was included in the study. The angle error values between the SRP of WPA algorithm in the experimental group 1 and the truth plane were evaluated in this study, and the SRP of PA algorithm of experimental group 2 was calculated in the same way. Statistics and measurement analysis were used to comprehensively evaluate the clinical suitability of the WPA algorithm to calculate the SRP. A paired t-test analysis (two-tailed) was conducted to compare the angles. RESULTS: The average angle error between the SRP of WPA algorithm and the ground truth was 1.53°±0.84°, which was smaller than that between the SRP of PA and the ground truth (2.06°±0.86°). There were significant differences in the angle errors among the groups (P < 0.05). For the patients with severe mandibular deviation that the distance between pogonion and facial midline greater than 12 mm, the average angle error of the WPA algorithm was 0.86° smaller than that of the PA algorithm. CONCLUSION: The WPA algorithm, based on weighted shape analysis, can provide a more adaptable SRP than the standard PA algorithm when applied to mandibular deviation patients and preliminarily simulate the diagnosis strategies of clinical experts.

A morphometric analysis of developmental instability in children born with unilateral cleft lip and palate.

Unilateral cleft lip and palate (UCLP) is a congenital deformity that occurs due to inadequate merging of the nasal and maxillary prominences during fetal development. Randomly distributed bilateral asymmetries known as fluctuating asymmetry (FA) occur in normally symmetric organisms when evolved mechanisms of developmental stability or equilibrium are disturbed by genetic, environmental, or unknown factors. Here, we hypothesize that facial skeleton FA will be increased in a sample of individuals born with UCLP (n = 24) relative to sex- and age-matched controls (n = 24). To test this hypothesis, 23 anatomical landmarks were measured on individual anonymized cone-beam computerized tomography (CBCT) images in children and adolescents (7-17 years). For each individual, 81 pairs of linear distances were used to estimate FAs across the face. To explore sample variation and statistical differences, a principal components analysis and Euclidean Distance Matrix Analysis multivariate bootstrap approach were carried out. Samples show some separation in multivariate space with 44.44% of FA differences being significantly different. The magnitude of FA was larger in the UCLP sample for every significant measurement. The magnitude of significant FA is highest near regions derived from the maxillary and nasal prominences, such as the nasal aperture. These results are useful for medical and dental practitioners when developing treatment options for children and adolescents with UCLP. Clin. Anat. 32:206-211, 2019. © 2018 Wiley Periodicals, Inc.

The Influence of trisomy 21 on facial form and variability.

Triplication of chromosome 21 (trisomy 21) results in Down syndrome (DS), the most common live-born human aneuploidy. Individuals with DS have a unique facial appearance that can include form changes and altered variability. Using 3D photogrammatic images, 3D coordinate locations of 20 anatomical landmarks, and Euclidean Distance Matrix Analysis methods, we quantitatively test the hypothesis that children with DS (n = 55) exhibit facial form and variance differences relative to two different age-matched (4-12 years) control samples of euploid individuals: biological siblings of individuals with DS (n = 55) and euploid individuals without a sibling with DS (n = 55). Approximately 36% of measurements differ significantly between DS and DS-sibling samples, whereas 46% differ significantly between DS and unrelated control samples. Nearly 14% of measurements differ significantly in variance between DS and DS sibling samples, while 18% of measurements differ significantly in variance between DS and unrelated euploid control samples. Of those measures that showed a significant difference in variance, all were relatively increased in the sample of DS individuals. These results indicate that faces of children with DS are quantitatively more similar to their siblings than to unrelated euploid individuals and exhibit consistent, but slightly increased variation with most individuals falling within the range of normal variation established by euploid samples. These observations provide indirect evidence of the strength of the genetic underpinnings of the resemblance between relatives and the resistance of craniofacial development to genetic perturbations caused by trisomy 21, while underscoring the complexity of the genotype-phenotype map.

Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated.

Comparative evaluation of arch form among the Nepalese population: A morphological study.

Aims: The study aims to identify sexual dimorphic features in the arch patterns based on tooth arrangement patterns and the maxillary and mandibular arches using Euclidean Distance Matrix Analysis (EDMA). Settings and Design: A total of 96 Nepalese subjects, aged 18 to 25 were assessed using casts and photographs. Materials and Methods: Thirteen landmarks representing the most facial portions of the proximal contact areas on the maxillary and mandibular casts were digitised. Seventy-eight possible, Euclidean distances between the 13 landmarks were calculated using the Analysis ToolPak of Microsoft Excel®. The male-to-female ratios of the corresponding distances were computed and ratios were compared to evaluate the arch form for variation in the genders, among the Nepalese population. Statistical Analysis Used: Microsoft Excel Analysis ToolPak and SPSS 20.0 (IBM Chicago) were used to perform EDMA and an independent t-test to compare the significant differences between the two genders. Results: The maxillary arch's largest ratio (1.008179001) was discovered near the location of the right and left lateral incisors, indicating that the anterior region may have experienced the greatest change. The posterior-molar region is where the smallest ratio was discovered, suggesting less variation. At the intercanine region, female arches were wider than male ones; however, at the interpremolar and intermolar sections, they were similar in width. Females' maxillary arches were discovered to be bigger antero-posteriorly than those of males. The highest ratio (1.014336113) in the mandibular arch was discovered at the intermolar area, suggesting that males had a larger mandibular posterior arch morphology. At the intercanine area, the breadth of the arch form was greater in males and nearly the same in females at the interpremolar and intermolar regions. Female mandibular arch forms were also discovered to be longer than those of males from the anterior to the posterior. Conclusions: The male and female arches in the Nepalese population were inferred to be different in size and shape. With references to the landmarks demonstrating such a shift, the EDMA established objectively the presence of square arch forms in Nepali males and tapering arch forms in Nepalese females.

Automatic extraction of facial median sagittal plane for patients with asymmetry based on the EDMA alignment algorithm.

BACKGROUND: We aimed to establish a novel method for automatically constructing three-dimensional (3D) median sagittal plane (MSP) for mandibular deviation patients, which can increase the efficiency of aesthetic evaluating treatment progress. We developed a Euclidean weighted Procrustes analysis (EWPA) algorithm for extracting 3D facial MSP based on the Euclidean distance matrix analysis, automatically assigning weight to facial anatomical landmarks. METHODS: Forty patients with mandibular deviation were recruited, and the Procrustes analysis (PA) algorithm based on the original mirror alignment and EWPA algorithm developed in this study were used to construct the MSP of each facial model of the patient as experimental groups 1 and 2, respectively. The expert-defined regional iterative closest point algorithm was used to construct the MSP as the reference group. The angle errors of the two experimental groups were compared to those of the reference group to evaluate their clinical suitability. RESULTS: The angle errors of the MSP constructed by the two EWPA and PA algorithms for the 40 patients were 1.39 ± 0.85°, 1.39 ± 0.78°, and 1.91 ± 0.80°, respectively. The two EWPA algorithms performed best in patients with moderate facial asymmetry, and in patients with severe facial asymmetry, the angle error was below 2°, which was a significant improvement over the PA algorithm. CONCLUSIONS: The clinical application of the EWPA algorithm based on 3D facial morphological analysis for constructing a 3D facial MSP for patients with mandibular deviated facial asymmetry deformity showed a significant improvement over the conventional PA algorithm and achieved the effect of a dental clinical expert-level diagnostic strategy.

Phenotypes of CCAAT/enhancer-binding protein beta deficiency: hyperdontia and elongated coronoid process.

OBJECTIVES: This investigation aimed to conduct a case-control study of mandibular morphology and dental anomalies to propose a relationship between mandibular/dental phenotypes and deficiency of CCAAT/enhancer-binding protein beta (CEBPB). MATERIALS AND METHODS: Skulls of CEBPB(-/-), CEBPB(+/-) and CEBPB(+/+) mice were inspected with micro-computed tomography. Mandibular morphology was assessed with a method of Euclidean distance matrix analysis. RESULTS: Elongation of the coronoid process was identified in CEBPB(+/-) (P ≤ 0.046) and CEBPB(-/-) 12-month-olds (P ≤ 0.028) but not in 14-day-olds (P ≥ 0.217) and 0-day-olds (P ≥ 0.189) of either genotype. Formation of supernumerary teeth in CEBPB(-/-) adult mice was demonstrated (χ(2) = 6.00, df = 1, P = 0.014). CONCLUSIONS: CEBPB deficiency was related to elongation of the coronoid process and formation of supernumerary teeth. The mandibular and dental phenotypes of CEBPB deficiency were unseen by the 14th day after birth. Future investigations into the influence of CEBPB on mandibular and dental development are needed.

Breaking Symmetry: A Quantitative Analysis of Facial Skeleton Disharmony in Children Born with Bilateral Cleft Lip and Palate.

Bilateral cleft lip and palate (BCLP) occurs when craniofacial precursors fail to form or fuse properly during development. The aim of this retrospective, cross-sectional investigation was to quantify directional asymmetry (DA) of the facial skeleton of children born with Veau Class IV nonsyndromic BCLP. To accomplish this goal, coordinate values of anatomical landmarks were acquired from three-dimensional cone beam computed tomographic images of the craniofacial skeleton of middle- to late-aged children born with BCLP and age- and sex-matched controls and used to compare patterns of asymmetry variation. Multivariate analyses revealed different patterns of DA variation across samples and identified approximately 30% of DA measures as significantly different. Magnitudes of statistically significant linear distances differ in the craniofacial region, with most smaller DA differences located near the orbits and frontal bone, while larger differences were localized mostly to the midface, alveolar ridge, and nasal borders. Generally, areas of the craniofacial skeleton derived from the maxillary and nasal prominences demonstrated the highest magnitudes of DA. The methods and results presented will be useful to biomedical researchers when identifying the extent to which patients with BCLP diverge from typical developmental expectations. Quantifying DA and assessing local differences across the craniofacial complex can aid medical practitioners when developing treatments to improve BCLP surgical algorithms and outcomes. Anat Rec, 302:1726-1732, 2019. © 2019 American Association for Anatomy.

Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome.

Apert syndrome (AS) is a common genetic syndrome in humans characterized with craniosynostosis. Apert patients and mouse models showed abnormalities in sutures, cranial base and brain, that may all be involved in the pathogenesis of skull malformation of Apert syndrome. To distinguish the differential roles of these components of head in the pathogenesis of the abnormal skull morphology of AS, we generated mouse strains specifically expressing mutant FGFR2 in chondrocytes, osteoblasts, and progenitor cells of central nervous system (CNS) by crossing Fgfr2+/P253R-Neo mice with Col2a1-Cre, Osteocalcin-Cre (OC-Cre), and Nestin-Cre mice, respectively. We then quantitatively analyzed the skull and brain morphology of these mutant mice by micro-CT and micro-MRI using Euclidean distance matrix analysis (EDMA). Skulls of Col2a1-Fgfr2+/P253R mice showed Apert syndrome-like dysmorphology, such as shortened skull dimensions along the rostrocaudal axis, shortened nasal bone, and evidently advanced ossification of cranial base synchondroses. The OC-Fgfr2+/P253R mice showed malformation in face at 8-week stage. Nestin-Fgfr2+/P253R mice exhibited increased dorsoventral height and rostrocaudal length on the caudal skull and brain at 8 weeks. Our study indicates that the abnormal skull morphology of AS is caused by the combined effects of the maldevelopment in calvarias, cranial base, and brain tissue. These findings further deepen our knowledge about the pathogenesis of the abnormal skull morphology of AS, and provide new clues for the further analyses of skull phenotypes and clinical management of AS.

Quantitative evaluation of the facial morphology of a Tolteca figurine from Mexico using geometric morphometric approaches / Evaluación cuantitativa de la morfología facial de una figura Tolteca de México utilizando la morfometría geométrica

Morphometric approaches can be combined with 2D or 3D imaging to quantitatively evaluate craniofacial medical conditions depicted in material culture and to learn more about the culture being studied. A terra-cotta figurine (circa 500 A.D.) from the Tolteca culture of Mexico has previously been qualitatively "diagnosed" with Down syndrome (DS) based on the presence or absence of facial features typically associated with trisomy 21. The purpose of this research is to quantitatively test the hypothesis that the Tolteca figurine exhibits facial features consistent with DS. Landmarks (n = 24) were acquired from sex- and age-matched (5-20 yrs) facial images of DS individuals (n = 32), euploid individuals (n = 32), and the Tolteca figurine. Landmark coordinates were subjected to geometric morphometric analyses, and the results suggest that the Tolteca figurine displays facial morphology consistent with DS.

Con el objetivo de evaluar cuantitativamente las complejas condiciones medicas craneofaciales, se pueden combinar los enfoques morfométricos con imágenes 2D o 3D representadas en la cultura material, para un mayor conocimiento referente al estudio cultural. Una figura de terracota (alrededor del 500 DC) de la cultura Tolteca de México ha sido previamente y cualitativamente "diagnosticada" con Síndrome de Down en base a la presencia o ausencia de rasgos faciales típicamente asociados con trisomía 21. El propósito de esta investigación fue comprobar cuantitativamente la hipótesis de que esta figura de la cultura Tolteca exhibe rasgos faciales consistentes con Síndrome de Down. Se identificaron puntos de referencia similares (n = 24) según sexo y edad (5-20 años) a imágenes faciales de individuos con Síndrome de Down (n = 32), individuos euploides (n = 32) y de la figura Tolteca. Los puntos de referencia fueron sometidos a un análisis morfométrico geométrico, y los resultados sugieren que la morfología facial de la figura Tolteca es consistente con el Síndrome de Down.