Search Results (54)

Background/Objectives: Sex estimation from craniofacial morphology is a fundamental component of biological profile construction in forensic anthropology. Population-specific reference data for Thai individuals derived from computed tomography (CT) remain limited, and direct comparisons between discriminant function analysis (DFA) and machine learning classifiers are frequently complicated by inconsistent validation protocols. This study aimed to characterize sexual dimorphism in CT-derived craniofacial measurements, compare the classification performance of DFA, support vector machine (SVM), and random forest (RF) under a unified validation protocol, and demonstrate their practical application in a forensic context. Methods: CT images from 300 Thai adults (150 males, 150 females; age range 20–90 years) were obtained from Srinagarind Hospital, Khon Kaen University. Eight linear craniofacial measurements spanning the cranial vault, facial skeleton, nasal aperture, and orbital region were obtained from each case. DFA, SVM, and RF were developed and compared under a unified leave-one-out cross-validation protocol. Classification performance was assessed using accuracy, AUC, and Matthews correlation coefficient (MCC). Results: Seven of eight measurements exhibited statistically significant sexual dimorphism, with facial breadth and nasal height demonstrating the greatest dimorphism. DFA achieved the highest classification accuracy of 85.7%, AUC of 0.924, and MCC of 0.713, incorporating five measurements into the canonical function. SVM and RF achieved comparable accuracy of 84.7% and 84.0%, respectively. All three classifiers correctly classified both forensic application cases with high confidence. Conclusions: CT-derived craniofacial measurements provide a reliable basis for sex estimation in Thai adults. The convergence of performance across all three classifiers under a unified internal validation protocol strengthens confidence in the internally validated performance estimates. The derived discriminant function equation and saved machine learning models constitute a complementary and immediately applicable toolkit for CT-based forensic sex estimation in the Thai population. Full article

Background/Objectives: Diseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common orofacial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome. Methods: For this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Science and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: “What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?”. Results: After selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review. Conclusions: Genetics plays a crucial role in craniofacial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias. Full article

The craniofacial skeleton is a complex three-dimensional structure, and major reconstructive cases remain challenging. We describe a synergistic approach combining intra-operative navigation, three-dimensionally (3D) printed skull models, and mixed reality (MR) to improve predictability in surgical outcomes. A patient with previously repaired bilateral cleft lip and palate, significant midfacial retrusion, and a large maxillary alveolar gap underwent segmental Le Fort I osteotomy and advancement. Preoperative virtual planning was performed, and reference templates were uploaded onto MR glasses. Intra-operatively, the MR glasses projected the templates as holograms onto the patient’s skull, guiding osteotomy line marking and validating bony segment movement, which was confirmed with conventional navigation. The 3D-printed skull model facilitated dissection and removal of intervening bony spicules. Preoperative planning proceeded seamlessly across software platforms. Osteotomy lines marked with MR showed good concordance with conventional navigation, and final segment positioning was accurately validated. Postoperative outcomes were satisfactory, with re-established occlusion and closure of the maxillary alveolar gap. The combined use of conventional navigation, 3D-printed models, and MR is feasible and allows safe integration of MR into complex craniofacial reconstruction while further validation of the technology is ongoing. Full article

Background and Clinical Significance: Juvenile ossifying fibroma (JOF) is a rare, benign, but locally aggressive fibro-osseous neoplasm that primarily affects the craniofacial skeleton of children and adolescents. Early surgical intervention is often required due to the lesion’s rapid growth and potential for significant facial deformity. Long-term functional and esthetic rehabilitation following maxillary resection in early childhood remains a clinical challenge. Case Presentation: This case reports a unique long-term follow-up of a 22-year-old female patient who underwent partial maxillary resection at the age of five due to JOF. Initial reconstructive efforts failed, necessitating a removable prosthesis to restore function and appearance. The patient experienced persistent self-consciousness and social withdrawal during adolescence, attributed to altered facial esthetics and repeated surgical disappointment. Nevertheless, prosthetic rehabilitation significantly improved mastication, phonetics, facial symmetry, and psychological well-being. Conclusions: The enduring psychosocial and functional impact of early maxillary resection for JOF and the pivotal role of prosthodontic management in long term rehabilitation are highlighted. A multidisciplinary approach that includes psychological support is suggested. This case report is among the few reports documenting long-term prosthetic outcomes for pediatric JOF patients extending into adulthood. Full article

Background: Treacher Collins Syndrome (TCS) is a rare, congenital craniofacial syndrome. Its most characteristic feature is mandibular and midface hypoplasia. Due to malformations of the facial skeleton, airway abnormalities can also be observed, predisposing individuals to obstructive sleep apnoea (OSA). OSA in TCS may contribute to significant morbidity, including developmental delays, cardiovascular disorders and reduced quality of life. Objectives: This narrative review aims to present the true prevalence of OSA and the treatment options for TCS patients. Additionally, the pathophysiology and diagnostic tools for this condition were briefly outlined. Methods: The literature search included publications from PubMed, Scopus, Web of Science and Cochrane Library. The chosen period of time for these publications was 2000–2024. Results: The results showed that OSA is a serious problem among TCS patients. Although there is no standardised treatment protocol, the primary methods often include mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP). Approaches such as hypoglossal nerve stimulation (HNS) need further investigation, especially with longitudinal observations. Conclusions: The development of treatment options seems to be promising, suggesting a favourable outlook for standardising the treatment protocols. Full article

Background/Objectives: Facial asymmetry is known to cause not only deformities in the facial skeleton but also alterations in the cranial vault. However, limited research has explored the association between mandibular asymmetry and cranial vault deformation. This study aimed to evaluate the three-dimensional craniofacial morphology, including the cranial vault, in patients with skeletal mandibular prognathism using computed tomography (CT) imaging. Methods: Patients were classified into two groups: those with facial asymmetry (ANB ≤ 0°, Menton deviation ≥ 4 mm) and those without (ANB ≤ 0°, Menton deviation < 3 mm). Reference planes were established in three orthogonal directions, and distances from anatomical landmarks on the maxilla and mandible to each reference plane were measured. Additionally, the cranial vault was segmented into four regions, and the volume of each section was calculated. Results: Compared with the symmetric group, the asymmetric group exhibited significant lateral displacement in the maxilla and both anteroposterior and lateral displacements in the mandible. Furthermore, a significant difference in the posterior cranial vault volume between the left and right sides was observed in the asymmetric group. A moderate positive correlation (r = 0.543, p = 0.045) was also found between the direction of mandibular deviation and the direction of posterior cranial vault deformation. Conclusions: A moderate positive correlation (r = 0.543, p = 0.045) was observed between mandibular deviation and posterior cranial vault asymmetry. These findings may suggest that the cranial vault morphology may influence facial asymmetry, and it may serve as one of the considerations for discussing the necessity of early intervention for cranial vault deformity during infancy. Full article

Background/Objectives: In contrast to endochondral bone healing, the process of intramembranous bone regeneration is poorly understood. This limits our ability to repair and regenerate the craniofacial skeleton to either correct deformity or optimally heal tissues following injury. While there are several preclinical models of intramembranous regeneration within the craniofacial skeleton, some are not load bearing and others are technically challenging. The goal of this pilot study is therefore to describe a simple method for induction of cortical defects within the mandible that does not involve compounding injury to the surrounding tissues. Methods: Single cortex defects were generated in the mandible body of 8-week-old male and female mice. The extent of bone regeneration within the defect was characterized at days 0, 3, 14, and 28 following defect generation via micro-computed tomography and histology. Conclusions: Observed healing was predictable and reproducible and resulted in intramembranous bone formation. This model will help aid the understanding of intramembranous bone healing in load bearing bones (e.g., mandible) within the craniofacial skeleton Full article

Background: Osteogenesis imperfecta (OI) is a rare genetic disorder affecting mainly type I collagen, which leads to bone fragility and deformities. OI patients also present craniofacial abnormalities such as macrocephaly and malocclusion. Recently, craniofacial dysmorphism was highlighted in the osteogenesis imperfecta mouse (oim), a validated model of the most severe form of OI. This study explores the impact of zoledronic acid (ZA), commonly administered to OI patients to increase bone mass and mechanical strength, on oim craniofacial structure. Methods: Fifteen oim received a single intravenous ZA injection (100 µg/kg) at 5 weeks (ZA group), while fifteen remained untreated (control). Before euthanasia at 14 weeks, in vivo computed tomography provided craniometric data. Post-euthanasia, heads underwent peripheral Quantitative Computed Tomography (pQCT); coronal decalcified sections through temporomandibular joints were analyzed (n = 6/mouse) after Masson’s trichrome staining (3 sections) or under polarized light to study collagen birefringence (3 sections). Results: In vivo craniometry highlighted the positive effect on vertical growth in ZA oim models as compared to untreated ones, with significant increases in mandibular length and incisor height and without any change in transversal dimensions. The pQCT scans showed the significantly higher total mineral density and cortical mineral density of the mandibular ramus in the ZA than the untreated group. Via microscopic analysis, the cranial vault was thicker and the collagen birefringence was higher in the ZA group than in the untreated group, but differences were not significant. Conclusion: To conclude, ZA had some beneficial effects on craniofacial vertical height and ramus density and, to a lower extent, on vault thickness, while transversal dimensions did not seem to be influenced by ZA intake. These data emphasize the need to consider the whole skeleton when treating OI patients. Full article

Background/Objectives: Polysomnography and cephalometry have been used for studying obstructive sleep apnea (OSA) etiology. The association between craniofacial skeleton and OSA severity remains controversial. To study OSA’s etiology, cephalometry, fiberoptic pharyngoscopy, polysomnography, and sleep endoscopy have been used; however, airway obstructions cannot be located. Recent research suggested ultrasonography for OSA screening and upper airway obstruction localization. Thus, this study aims to investigate the relationship between specific craniofacial cephalometric and ultrasonic airway parameters in adults at high risk of OSA. Methods: To assess craniofacial structure, lateral cephalograms were taken from thirty-three adults over 18 with a STOP-Bang questionnaire score of three or higher and a waist-to-height ratio (WHtR) of 0.5 or higher. Airway parameters were assessed through submental ultrasound. Results: NSBA correlated with tongue base airspace width, while MP-H correlated with oropharynx, tongue base, and epiglottis airspace width. SNA, SNB, and NSBA correlated with tongue width at the oropharynx. At tongue base, ANB and MP-H correlated with tongue width. SNB and NSBA were associated with deep tissue thickness at the oropharynx, while MP-H correlated with superficial tissue thickness at velum and oropharynx. Conclusions: Cephalometric parameters (SNA, SNB, ANB, NSBA, and MP-H) were correlated with ultrasonic parameters in the velum, oropharynx, tongue base, and epiglottis. Full article

Facial Feminization Surgery (FFS) is a transformative surgical approach aimed at aligning the facial features of transgender women with their gender identity. Through a systematic analysis, this paper explores the clinical differences between male and female facial skeletons along with the craniofacial techniques employed in FFS for each region. The preoperative planning stage is highlighted, emphasizing the importance of virtual planning and AI morphing as valuable tools to be used to achieve surgical precision. Consideration is given to special circumstances, such as procedure sequencing for older patients and silicone removal. Clinical outcomes, through patient-reported outcome measures and AI-based gender-typing assessments, showcase the efficacy of FFS in achieving proper gender recognition and alleviating gender dysphoria. This comprehensive review not only offers valuable insights into the current state of knowledge regarding FFS but also emphasizes the potential of artificial intelligence in outcome evaluation and surgical planning to further advance patient care and satisfaction with FFS. Full article

The early diverging, dolphin-sized, cetacean clade Xenorophidae are a short-lived radiation of toothed whales (Odontoceti) that independently evolved two features long thought to be odontocete synapomorphies: the craniofacial and cochlear morphology underlying echolocation and retrograde cranial telescoping (i.e., posterior migration of the viscerocranium). This family was based on Xenorophus sloanii, which, for the past century, has been known only by a partial skull lacking a braincase and tympanoperiotics, collected around 1900 from the Ashley Formation (28–29 Ma, Rupelian) near Ladson, South Carolina. A large collection of new skulls and skeletons (ChM PV 5022, 7677; CCNHM 104, 168, 1077, 5995) from the Ashley Formation considerably expands the hypodigm for this species, now the best known of any stem odontocete and permitting evaluation of intraspecific variation and ontogenetic changes. This collection reveals that the holotype (USNM 11049) is a juvenile. Xenorophus sloanii is a relatively large odontocete (70–74 cm CBL; BZW = 29–31 cm; estimated body length 2.6–3 m) with a moderately long rostrum (RPI = 2.5), marked heterodonty, limited polydonty (13–14 teeth), prominent sagittal crest and intertemporal constriction, and drastically larger brain size than basilosaurid archaeocetes (EQ = 2.9). Dental morphology, thickened cementum, a dorsoventrally robust rostrum, and thick rugose enamel suggest raptorial feeding; oral pathology indicates traumatic tooth loss associated with mechanically risky predation attempts. Ontogenetic changes include increased palatal vomer exposure; fusion of the nasofrontal, occipito-parietal, and median frontal sutures; anterior lengthening of the nasals; elaboration of the nuchal crests; and blunting and thickening of the antorbital process. The consistent deviation of the rostrum 2–5° to the left and asymmetry of the palate, dentition, neurocranium, mandibles, and vertebrae in multiple specimens of Xenorophus sloanii suggest novel adaptations for directional hearing driven by the asymmetrically oriented pan bones of the mandibles. A second collection consisting of a skeleton and several skulls from the overlying Chandler Bridge Formation (24–23 Ma, Chattian) represents a new species, Xenorophus simplicidens n. sp., differing from Xenorophus sloanii in possessing shorter nasals, anteroposteriorly shorter supraorbital processes of the frontal, and teeth with fewer accessory cusps and less rugose enamel. Phylogenetic analysis supports monophyly of Xenorophus, with specimens of Xenorophus simplicidens nested within paraphyletic X. sloanii; in concert with stratigraphic data, these results support the interpretation of these species as part of an anagenetic lineage. New clade names are provided for the sister taxon to Xenorophidae (Ambyloccipita), and the odontocete clade excluding Xenorophidae, Ashleycetus, Mirocetus, and Simocetidae (Stegoceti). Analyses of tooth size, body size, temporal fossa length, orbit morphology, and the rostral proportion index, prompted by well-preserved remains of Xenorophus, provide insight into the early evolution of Odontoceti. Full article

The nasal septum is believed to play a crucial role in the development of the craniofacial skeleton. Nasal septum deviation (NSD) is a common condition, affecting 18–65% of individuals. This study aimed to assess the prevalence of NSD and its potential association with abnormalities detected through cephalometric analysis using artificial intelligence (AI) algorithms. The study included CT scans of 120 consecutive, post-traumatic patients aged 18–30. Cephalometric analysis was performed using an AI web-based software, CephX. The automatic analysis comprised all the available cephalometric analyses. NSD was assessed using two methods: maximum deviation from an ideal non-deviated septum and septal deviation angle (SDA). The concordance of repeated manual measurements and automatic analyses was assessed. Of the 120 cases, 90 met the inclusion criteria. The AI-based cephalometric analysis provided comprehensive reports with over 100 measurements. Only the hinge axis angle (HAA) and SDA showed significant (p = 0.039) negative correlations. The rest of the cephalometric analyses showed no correlation with the NSD indicators. The analysis of the agreement between repeated manual measurements and automatic analyses showed good-to-excellent concordance, except in the case of two angular measurements: LI-N-B and Pr-N-A. The CephX AI platform showed high repeatability in automatic cephalometric analyses, demonstrating the reliability of the AI model for most cephalometric analyses. Full article

Reconstruction of the midface represents a challenge for reconstructive microsurgeons given the formidable task of restoring both aesthetics and functionality. In particular, preservation of proper globe positioning and maintaining normal vision are as important as restoring the proper projection of the midface and enabling a patient to speak and eat as normally as possible. The introduction of virtual surgical planning (VSP) and medical modeling has revolutionized bony reconstruction of the craniofacial skeleton; however, the overwhelming majority of studies have focused on mandibular reconstruction. Here, we introduce some novel advances in utilizing VSP for bony reconstruction of the midface. The present review aims (1) to provide a review of the literature on the use of VSP in midface reconstruction and (2) to provide some insights from the authors’ early experience. Full article

This study aimed to provide a complex analysis of the modifications in craniofacial skeleton development that may arise following the diagnosis of pediatric benign jaw tumors. A prospective study was undertaken involving 53 patients younger than 18 years of age, who presented for treatment at the Department of Maxillo-Facial Surgery, University of Medicine and Pharmacy, Cluj-Napoca, with a primary benign jaw lesion between 2012 and 2022. A total of 28 odontogenic cysts (OCs), 14 odontogenic tumors (OTs), and 11 non-OTs were identified. At follow-up, dental anomalies were identified in 26 patients, and overjet changes were found in 33 children; lateral crossbite, midline shift, and edge-to-edge bite were found in 49 cases; deep or open bite were found in 23 patients. Temporomandibular disorders (TMDs) were found in 51 children, with unilateral TMJ changes identified in 7 cases and bilateral modifications found in 44 patients. Degenerative changes in the TMJ were also diagnosed in 22 pediatric patients. Although benign lesions could be associated with dental malocclusions, a direct etiological factor could be not identified. The presence of jaw tumors or their surgical treatment could, however, be linked to a change of the occlusal relationships or the onset of a TMD. Full article

Most human birth defects are phenotypically variable even when they share a common genetic basis. Our understanding of the mechanisms of this variation is limited, but they are thought to be due to complex gene-environment interactions. Loss of the transcription factor Gata3 associates with the highly variable human birth defects HDR syndrome and microsomia, and can lead to disruption of the neural crest-derived facial skeleton. We have demonstrated that zebrafish gata3 mutants model the variability seen in humans, with genetic background and candidate pathways modifying the resulting phenotype. In this study, we sought to use an unbiased bioinformatic approach to identify environmental modifiers of gata3 mutant craniofacial phenotypes. The LINCs L1000 dataset identifies chemicals that generate differential gene expression that either positively or negatively correlates with an input gene list. These chemicals are predicted to worsen or lessen the mutant phenotype, respectively. We performed RNA-seq on neural crest cells isolated from zebrafish across control, Gata3 loss-of-function, and Gata3 rescue groups. Differential expression analyses revealed 551 potential targets of gata3. We queried the LINCs database with the 100 most upregulated and 100 most downregulated genes. We tested the top eight available chemicals predicted to worsen the mutant phenotype and the top eight predicted to lessen the phenotype. Of these, we found that vinblastine, a microtubule inhibitor, and clofibric acid, a PPAR-alpha agonist, did indeed worsen the gata3 phenotype. The Topoisomerase II and RNA-pol II inhibitors daunorubicin and triptolide, respectively, lessened the phenotype. GO analysis identified Wnt signaling and RNA polymerase function as being enriched in our RNA-seq data, consistent with the mechanism of action of some of the chemicals. Our study illustrates multiple potential pathways for Gata3 function, and demonstrates a systematic, unbiased process to identify modifiers of genotype-phenotype correlations. Full article