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Inflammatory myofibroblastic tumors (IMTs) represent rare neoplasms, particularly infrequent in the pediatric skull. We present a novel case of a newborn male with a 5 cm right temporal mass and discuss current diagnostic and treatment options for IMTs. A multidisciplinary effort to surgically remove the lesion was successful, and the patient's skull defect healed without neurological deficits. The etiology of IMTs remains elusive, with proposed associations with chromosomal mutations in the anaplastic lymphoma kinase (ALK) gene. Surgical excision remains the primary treatment for IMTs. Promising pharmacological treatments, like Crizotinib, warrant further research into understanding potential alternatives in IMT management. [ABSTRACT FROM AUTHOR]

Les fentes frontales orbitaires supérieures font partie des fentes rares craniofaciales décrites par Tessier en 1976, dont la survenue est le plus souvent sporadique. Elles sont numérotées 9, 10 et 11 dans cette classification et siègent respectivement latéralement, médianement et médialement vis-à-vis de la partie supérieure de l'orbite. Leurs expressions cliniques sont variables sur les tissus mous et osseux, avec une dissociation d'atteinte possible, et vont d'un simple défaut esthétique à la mise en jeu du pronostic fonctionnel oculaire. Le scanner est systématiquement justifié dans ce cadre. Leur prise en charge doit être adaptée au vu du polymorphisme des atteintes et repose sur une prise en charge multidisciplinaire, avec une reconstruction chirurgicale des parties molles urgente en cas de mise en jeu du pronostic oculaire. Dans les autres cas, la prise en charge est différée mais doit rester précoce afin de permettre un bon développement de l'enfant. Superior orbital frontal clefts are one of the rare craniofacial clefts described by Tessier in 1976, and occur most often sporadically. They are numbered 9, 10 and 11 in this classification, and are located respectively laterally, in the middle and medially to the upper part of the orbit. Their clinical expression is variable on soft tissue and bone, with possible dissociation of involvement. They range from a simple aesthetic defect to an eyes functional prognosis. CT scans are systematically required in this context. Their management must be adapted to the polymorphism of the damage, and is based on multidisciplinary approach. In case of ocular risk, the eyelid reconstruction is an emergency. In all other cases, treatment is deferred, but must be carried out at an early stage to ensure the child's healthy development. [ABSTRACT FROM AUTHOR]

The emergence of low-dose protocols for CT imaging has mitigated pediatric radiation exposure, yet ionizing radiation remains a concern for children with complex craniofacial conditions requiring repeated radiologic monitoring. In this work, the clinical feasibility of an ultrashort echo time (UTE) MRI sequence was investigated in pediatric patients. Twelve pediatric patients (6 female, age range 8 to 18 years) with various imaging conditions were scanned at 3T using a dual-radiofrequency, dual-echo UTE MRI sequence. Bright-bone images were generated using a weighted least-squares conjugate gradient method to enhance bone specificity. The overlap of the binary skull masks was quantified using the Dice similarity coefficient (DSC) and the 95th percentile Hausdorff distance (HD95) to evaluate the similarity between MRI and CT. To assess the anatomic accuracy of 3D skull reconstructions, six craniometric distances were recorded and the agreement between MRI- and CT-derived measurements was evaluated using Lin's concordance correlation coefficient (ρ c). The bright-bone images from UTE MRI demonstrated high bone-contrast, suppression of soft tissue, and separation from air at the sinuses. The DSC and HD95 between MRI and CT had medians of 0.81 ± 0.10 and 1.87 ± 0.32 mm, respectively. There was good agreement between MRI and CT for all craniometric distances (ρ c ranging from 0.90 to 0.99) with a mean absolute difference in measurements of < 2 mm. The clinical feasibility of the UTE MRI sequence for craniofacial imaging was demonstrated in a cohort of pediatric patients, showing good agreement with CT in resolving thin bone structures and craniometry. [ABSTRACT FROM AUTHOR]

Congenital melanocytic nevus (CMN) is a benign skin lesion present from birth, which may present with a risk of malignant transformation if extensive. Curettage, a treatment method involving the removal of the superficial layer of the nevus, is often used in the early stages of life. However, recurrence of the nevus and postoperative scarring may present as problems. Additional treatments, such as resection and/or laser treatment, are regularly required after curettage, particularly in the craniofacial region. However, no systematic treatment strategy has been reported. This study investigated additional treatments used after curettage to treat CMN in the craniofacial region and compared the frequency of treatments with respect to specific sites. CMN cases involving curettage as an initial treatment were retrospectively reviewed at Kyoto University Hospital between May 2019 and April 2022. This study comprised 23 cases. Curettage was performed at a mean of 3.8 (1–10) months of age. No additional treatments were provided for 80% of head CMN. Additional treatments were performed in all cases, including the forehead and cheek. Laser treatment was performed in 86% of eyelid CMN and 75% of nasal CMN. Tissue expansion and flap closure were used in 33% of forehead CMN and 33% of cheek CMN. Additional treatments used for CMN in the craniofacial region varied in accordance with the lesion site. [ABSTRACT FROM AUTHOR]

Recent adaptive radiations provide experimental opportunities to parse the relationship between genomic variation and the origins of distinct phenotypes. Sympatric radiations of the charr complex (genus Salvelinus) present a trove for phylogenetic analyses as charrs have repeatedly diversified into multiple morphs with distinct feeding specializations. However, charr species flocks normally comprise only two to three lineages. Dolly Varden charr inhabiting Lake Kronotskoe represent the most extensive radiation described for the genus, containing at least seven lineages, each with defining morphological and ecological traits. Here, we perform the first genome-wide analysis of this species flock to parse the foundations of adaptive change. Our data support distinct, reproductively isolated lineages within the clade. We find that changes in genes associated with thyroid signaling and craniofacial development provided a foundational shift in evolution to the lake. The thyroid axis is further implicated in subsequent lineage partitioning events. These results delineate a genetic scenario for the diversification of specialized lineages and highlight a common axis of change biasing the generation of specific forms during adaptive radiation. [ABSTRACT FROM AUTHOR]

Craniofacial surgery requires comprehensive anatomical knowledge of the head and neck to ensure patient safety and surgical precision. Over recent decades, there have been significant advancements in imaging techniques and the development of real-time surgical navigation systems. Intraoperative navigation technology aligns surgical instruments with imaging-derived information on patient anatomy, enabling surgeons to closely follow preoperative plans. This system functions as a radiologic map, improving the accuracy of instrument placement and minimizing surgical complications. The introduction of first-generation navigation systems in the early 1990s revolutionized surgical procedures by enabling real-time tracking of instruments using preoperative imaging. Initially utilized in neurosurgery, intraoperative navigation has since become standard practice in otolaryngology, cranio-maxillofacial surgery, and orthopedics. Since the 2000s, second-generation navigation systems have been developed to meet the growing demand for precision across various surgical specialties. The adoption of these systems in craniofacial surgery has been slower, but their use is increasing, particularly in procedures such as foreign body removal, facial bone fracture reconstruction, tumor resection, and craniofacial reconstruction and implantation. In Korea, insurance coverage for navigation in craniofacial surgery began in 2021, and new medical technologies for orbital wall fracture treatment were approved in August 2022. These technologies have only recently become clinically available, but are expected to play an increasingly important role in craniofacial surgery. Intraoperative navigation enhances operative insight, improves target localization, and increases surgical safety. Although these systems have a steep learning curve and initially prolong surgery, efficiency improves with experience. Calibration issues, registration errors, and soft tissue deformation can introduce inaccuracies. Nonetheless, navigation technology is evolving, and the integration of intraoperative computed tomography data holds promise for further enhancements of surgical accuracy. This paper discusses the various types and applications of navigation employed in craniofacial surgery, highlighting their benefits and limitations. [ABSTRACT FROM AUTHOR]

Background: Facial gender-affirming surgery (FGAS), one of many transition-related surgeries (TRSs), "feminizes" the faces of transgender and gender diverse (TGD) patients undergoing transition. However, it is difficult to demonstrate the medical necessity of FGAS in terms of postoperative quality of life (QoL) outcomes due to a lack of standardized assessment tools. Thus, FGAS remains largely unsubsidized in North America. Methods: A systematic review of online databases was conducted according to PRISMA guidelines. Screening and quality assessment was conducted by two independent blinded reviewers (KJ and GR). For statistical analysis, data from different Likert-scale-like questionnaires were extracted and coalesced into three-point scales on a data table of seven QoL domains; "Pre-" and "Postoperative femininity," "Psychological satisfaction," "Social Integration and Functioning," "Aesthetic Satisfaction," "Physical Health," and "Satisfaction with Surgical Results." Results: From 2000 to 2022, 1837 patients and 3886 procedures from 19 studies were included. Weighted averages across all QoL domains reflected statistically significant improvement compared to neutral following FGAS (p < 0.001). Three studies used the same questionnaire, which showed that out of all eight questions regarding facial appearance, FGAS patients most strongly agreed the surgery was important to their ability to live as a woman (mean = 4.56/5, n = 137). Secondary outcomes showed the most common complications were hardware palpability (3.45%, n = 145) and aberrant scarring (2.17%, n = 423) with an overall revision rate of 2.17% (n = 423). The most common procedure was fronto-orbital remodeling. Conclusion: FGAS significantly improves QoL with minimal risk to life and supports the literature in defining FGAS as a medically necessary procedure comparable to other TRSs. [ABSTRACT FROM AUTHOR]

Currently, principles of tissue engineering and implantology are uniformly applied to all bone sites, disregarding inherent differences in collagen, mineral composition, and healing rates between craniofacial and long bones. These differences could potentially influence bone quality during the healing process. Evaluating bone quality during healing is crucial for understanding local mechanical properties in regeneration and implant osseointegration. However, site-specific changes in bone quality during healing remain poorly understood. In this study, we assessed newly formed bone quality in sub-critical defects in the maxilla and femur, while impairing collagen cross-linking using β-aminopropionitrile (BAPN). Our findings revealed that femoral healing bone exhibited a 73 % increase in bone volume but showed significantly greater viscoelastic and collagen changes compared to surrounding bone, leading to increased deformation during long-term loading and poorer bone quality in early healing. In contrast, the healing maxilla maintained equivalent hardness and viscoelastic constants compared to surrounding bone, with minimal new bone formation and consistent bone quality. However, BAPN-impaired collagen cross-linking induced viscoelastic changes in the healing maxilla, with no further changes observed in the femur. These results challenge the conventional belief that increased bone volume correlates with enhanced tissue-level bone quality, providing crucial insights for tissue engineering and site-specific implant strategies. The observed differences in bone quality between sites underscore the need for a nuanced approach in assessing the success of regeneration and implant designs and emphasize the importance of exploring site-specific tissue engineering interventions. Accurate measurement of bone quality is crucial for tissue engineering and implant therapies. Bone quality varies between craniofacial and long bones, yet it's often overlooked in the healing process. Our study is the first to comprehensively analyze bone quality during healing in both the maxilla and femur. Surprisingly, despite significant volume increase, femur healing bone had poorer quality compared to the surrounding bone. Conversely, maxilla healing bone maintained consistent quality despite minimal bone formation. Impaired collagen diminished maxillary healing bone quality, but had no further effect on femur bone quality. These findings challenge the notion that more bone volume equals better quality, offering insights for improving tissue engineering and implant strategies for different bone sites. [Display omitted] [ABSTRACT FROM AUTHOR]

Pathogenic variants in SF3B4, a component of the U2 snRNP complex important for branchpoint sequence recognition and splicing, are responsible for the acrofacial disorders Nager and Rodriguez Syndrome, also known as SF3B4-related syndromes. Patients exhibit malformations in the head, face, limbs, vertebrae as well as the heart. To uncover the etiology of craniofacial malformations found in SF3B4-related syndromes, mutant mouse lines with homozygous deletion of Sf3b4 in neural crest cells (NCC) were generated. Like in human patients, these embryos had craniofacial and cardiac malformations with variable expressivity and penetrance. The severity and survival of Sf3b4 NCC mutants was modified by the level of Sf3b4 in neighboring non-NCC. RNA sequencing analysis of heads of embryos prior to morphological abnormalities revealed significant changes in expression of genes forming the NCC regulatory network, as well as an increase in exon skipping. Additionally, several key histone modifiers involved in craniofacial and cardiac development showed increased exon skipping. Increased exon skipping was also associated with use of a more proximal branch point, as well as an enrichment in thymidine bases in the 50 bp around the branch points. We propose that decrease in Sf3b4 causes changes in the expression and splicing of transcripts required for proper craniofacial and cardiac development, leading to abnormalities. [ABSTRACT FROM AUTHOR]

This case report describes the findings of craniofacial anomalies associated with dystocia in a mixed‐breed bitch. A bitch in labour was presented for evaluation of dystocia, and an emergency caesarean section was performed. Two pups with craniofacial abnormalities were delivered by hysterotomy. One pup was stillborn, with congenital anomalies including palatoschisis (cleft palate), cheiloschisis (cleft lip), an open fontanelle, and a narrow teardrop‐shaped skull. The second pup was delivered alive and had cheiloschisis. Craniofacial malformations are a reported cause of dystocia in the dog, usually due to obstruction. However, dystocia in the reported case is presumed to have developed because the pup's craniofacial malformations prevented stimulation of uterine contractions. To the authors' knowledge, this is the first case report to describe craniofacial abnormalities affecting 100% of the litter and is the first known report to describe the relationship between craniofacial abnormalities and presumptive primary uterine inertia. [ABSTRACT FROM AUTHOR]

Introduction: Despite being invasive, direct measurements remain the gold standard to measure intra-cranial pressure (ICP) in patients with craniosynostosis. However, there has been persistent effort to develop non-invasive modalities to measure ICP, possibly avoiding some of the risks of direct measurements. Here, we conduct a systematic review of the evidence behind various non-invasive modalities to monitor ICP in patients with craniosynostosis. Methods: A systematic review was conducted using PubMed, Cochrane, and Web of Science databases to identify studies describing the use of non-invasive ICP measurements in patients with craniosynostosis. Studies were included if they assessed a non-invasive method of ICP monitoring against a direct/invasive ICP monitoring technique in patients with craniosynostosis. Non-English and non-human studies were excluded. Results: A total of 735 studies were screened, of which 52 were included in the study. Nine methods of non-invasive ICP measurement were identified, with varying sensitivities and specificities in detecting elevated ICP. Specifically, optical coherence tomography (OCT), and ocular ultrasonography demonstrated ability to accurately measure ICP when compared to direct measurements. Conclusion: Here, we present the first systemic-review of the current literature surrounding non-invasive modalities to measure ICP in patients with craniosynostosis. While direct measurement remains the gold-standard, multiple reviewed modalities have shown promise in accurately measuring ICP. Of these, OCT has the most rigorous evidence supporting its use. Ocular sonography has also shown promise, albeit without as robust evidence supporting its use. Regardless, further investigation is required before any modality is able to obviate the need for invasive, direct measurements. [ABSTRACT FROM AUTHOR]

Objective: Significant evidence links epigenetic processes governing the dynamics of DNA methylation and demethylation to an increased risk of syndromic and nonsyndromic cleft lip and/or cleft palate (CL/P). Previously, we characterized mesenchymal stem/stromal cells (MSCs) at different stages of osteogenic differentiation in the mouse incisor dental pulp. The main objective of this research was to characterize the transcriptional landscape of regulatory genes associated with DNA methylation and demethylation at a single-cell resolution. Design: We used single-cell RNA sequencing (scRNA-seq) data to characterize transcriptome in individual subpopulations of MSCs in the mouse incisor dental pulp. Settings: The biomedical research institution. Patients/Participants: This study did not include patients. Interventions: This study collected and analyzed data on the single-cell RNA expssion in the mouse incisor dental pulp. Main outcome measure(s): Molecular regulators of DNA methylation/demethylation exhibit differential transcriptional landscape in different subpopulations of osteogenic progenitor cells. Results: scRNA-seq analysis revealed that genes encoding DNA methylation and demethylation enzymes (DNA methyltransferases and members of the ten-eleven translocation family of methylcytosine dioxygenases), methyl-DNA binding domain proteins, as well as transcription factors and chromatin remodeling proteins that cooperate with DNA methylation machinery are differentially expressed within distinct subpopulations of MSCs that undergo different stages of osteogenic differentiation. Conclusions: These findings suggest some mechanistic insights into a potential link between epigenetic alterations and multifactorial causes of CL/P phenotypes. [ABSTRACT FROM AUTHOR]

Study Design: This is an article review on the current state of periosteum-mediated bone regeneration (PMBR). It is a known mandibular reconstruction option in children, and though poorly understood and unpredictable, the concerns of developmental changes to donor and recipient tissues shared by other treatment options are nonexistent. The definitive role of periosteum during bone regeneration remains largely unknown. Objective: The objective is to review the literature on the clinical and molecular mechanism evidence of this event. Methods: Our search methodology was modeled after the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) guidelines. Search strategies were categorized into search 1 for clinical evidence of mandibular regeneration and search 2 for gene expression review for craniofacial regeneration. The quality assessment of each publication was undertaken, and inclusion criteria comprise mandibular continuity defect for search 1 and use of gene expression assay propriety kit for search 2. Results: 33 studies were selected for search 1 while four studies with non-human subjects were selected for search 2. Monitoring of PMBR onset was advised at 2 weeks post-operative, and the gene expression results showed an upregulation of genes responsible for angiogenesis, cytokine activities, and immune–inflammatory response in week 1 and skeletal development and signaling pathways in week 2. Conclusions: The results suggest that young periosteum has a higher probability of PMBR than adult periosteum, and skeletal morphogenesis regulated by skeletal developmental genes and pathways may characterize the gene expression patterns of PMBR. [ABSTRACT FROM AUTHOR]

Study Design: Cranial vault remodeling (CVR) for unicoronal synostosis is challenging due to the asymmetric nature of the deformity. Computer-automated surgical planning has demonstrated success in reducing the subjectivity of decision making in CVR in symmetric subtypes. This proof of concept study presents a novel method using Boolean functions and image registration to automatically suggest surgical steps in asymmetric craniosynostosis. Objective: The objective of this study is to introduce automated surgical planning into a CVR virtual workflow for an asymmetric craniosynostosis subtype. Methods: Virtual workflows were developed using Geomagic Freeform Plus software. Hausdorff distances and color maps were used to compare reconstruction models to the preoperative model and a control skull. Reconstruction models were rated as high or low performing based on similarity to the normal skull and the amount of advancement of the frontal bone (FB) and supra-orbital bar (SOB). Fifteen partially and fully automated workflow iterations were carried out. Results: FB and SOB advancement ranged from 3.08 to 10.48 mm, and −1.75 to 7.78 mm, respectively. Regarding distance from a normal skull, models ranged from.85 to 5.49 mm at the FB and 5.40 to 10.84 mm at the SOB. An advancement of 8.43 mm at the FB and 7.73 mm at the SOB was achieved in the highest performing model, and it differed to a comparative normal skull by.02 mm at the FB and.48 mm at the SOB. Conclusions: This is the first known attempt at developing an automated virtual surgical workflow for CVR in asymmetric craniosynostosis. Key regions of interest were outlined using Boolean operations, and surgical steps were suggested using image registration. These techniques improved post-operative skull morphology [ABSTRACT FROM AUTHOR]

Background: Techniques for identifying facial features and proving the individuality of a person’s facial features are used in forensic anthropology. Aims and Objectives: A common method in this area is cranial anthropometry, which has uses in facial reconstruction, locating unidentified remains, and identifying criminal suspects. MATERIALS AND METHODS: A study analyzed 200 standard full-face photographs of 50 males and 50 females to compare frontal and lateral facial images and identify male and female facial traits. We located landmarks and measured the distances between them. The data were analyzed using statistical tests like t-tests and analysis of variance (ANOVA) tests. Result: The results showed that in 100% of the suggested measurements for both males and females, there were no statistically significant differences (P > 0.05) between frontal and lateral views. The ANOVA test, however, showed that all suggested measurements showed differences in the lateral aspect, while only 76.92% of them showed differences between the male and female groups in the frontal aspect. Conclusion: In conclusion, statistically significant differences were found, rejecting the null hypothesis of equal means, when the level of significance (α) was lower than the P value (0.05). On the other hand, the null hypothesis was accepted when statistically insignificant differences were found and the level of significance was higher than the P value. Although there were differences between males and females in different views, the distances between landmarks in frontal and lateral views of the same person were generally similar. Measurements taken in the lateral aspect were more accurate and displayed greater sexual dimorphism variation compared to those taken in the frontal aspect.

Craniofacial development is orchestrated by transcription factor-driven regulatory networks, epigenetic modifications, and signaling pathways. Signaling molecules and their receptors rely on endo-lysosomal trafficking to prevent accumulation on the plasma membrane. ESCRT (Endosomal Sorting Complexes Required for Transport) machinery is recruited to endosomal membranes enabling degradation of such endosomal cargoes. Studies in vitro and in invertebrate models established the requirements of the ESCRT machinery in membrane remodeling, endosomal trafficking, and lysosomal degradation of activated membrane receptors. However, investigations during vertebrate development have been scarce. By ENU-induced mutagenesis, we isolated a mouse line, Vps25ENU/ENU, carrying a hypomorphic allele of the ESCRT-II component Vps25, with craniofacial anomalies resembling features of human congenital syndromes. Here, we assessed the spatiotemporal dynamics of Vps25 and additional ESCRT-encoding genes during murine development. We show that these genes are ubiquitously expressed although enriched in discrete domains of the craniofacial complex, heart, and limbs. ESCRT-encoding genes, including Vps25, are expressed in both cranial neural crest-derived mesenchyme and epithelium. Unlike constitutive ESCRT mutants, Vps25ENU/ENU embryos display late lethality. They exhibit hypoplastic lower jaw, stunted snout, dysmorphic ear pinnae, and secondary palate clefting. Thus, we provide the first evidence for critical roles of ESCRT-II in craniofacial morphogenesis and report perturbation of NOTCH signaling in craniofacial domains of Vps25ENU/ENU embryos. Given the known roles of NOTCH signaling in the developing cranium, and notably the lower jaw, we propose that the NOTCH pathway partly mediates the craniofacial defects of Vps25ENU/ENU mouse embryos.

Crouzon syndrome is a congenital craniofacial disorder caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2). It is characterized by the premature fusion of cranial sutures, leading to a brachycephalic head shape, and midfacial hypoplasia. The aim of this study was to investigate the effect of the FGFR2 mutation on the microarchitecture of cranial bones at different stages of postnatal skull development, using the FGFR2C342Y mouse model. Apart from craniosynostosis, this model shows cranial bone abnormalities. High‐resolution synchrotron microtomography images of the frontal and parietal bone were acquired for both FGFR2C342Y/+ (Crouzon, heterozygous mutant) and FGFR2+/+ (control, wild‐type) mice at five ages (postnatal days 1, 3, 7, 14 and 21, n = 6 each). Morphometric measurements were determined for cortical bone porosity: osteocyte lacunae and canals. General linear model to assess the effect of age, anatomical location and genotype was carried out for each morphometric measurement. Histological analysis was performed to validate the findings. In both groups (Crouzon and wild‐type), statistical difference in bone volume fraction, average canal volume, lacunar number density, lacunar volume density and canal volume density was found at most age points, with the frontal bone generally showing higher porosity and fewer lacunae. Frontal bone showed differences between the Crouzon and wild‐type groups in terms of lacunar morphometry (average lacunar volume, lacunar number density and lacunar volume density) with larger, less dense lacunae around the postnatal age of P7–P14. Histological analysis of bone showed marked differences in frontal bone only. These findings provide a better understanding of the pathogenesis of Crouzon syndrome and will contribute to computational models that predict postoperative changes with the aim to improve surgical outcome. [ABSTRACT FROM AUTHOR]

Abstract Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability. Thus, our study aimed to identify genes enriched with nonsynonymous rare coding variants associated with NSOFCs. Our sample included 814 non-syndromic cleft lip with or without palate (NSCL/P), 205 non-syndromic cleft palate only (NSCPO), and 2150 unrelated control children from Nigeria, Ghana, and Ethiopia. We conducted a gene-based analysis separately for each phenotype using three rare-variants collapsing models: (1) protein-altering (PA), (2) missense variants only (MO); and (3) loss of function variants only (LOFO). Subsequently, we utilized relevant transcriptomics data to evaluate associated gene expression and examined their mutation constraint using the gnomeAD database. In total, 13 genes showed suggestive associations (p = E−04). Among them, eight genes (ABCB1, ALKBH8, CENPF, CSAD, EXPH5, PDZD8, SLC16A9, and TTC28) were consistently expressed in relevant mouse and human craniofacial tissues during the formation of the face, and three genes (ABCB1, TTC28, and PDZD8) showed statistically significant mutation constraint. These findings underscore the role of rare variants in identifying candidate genes for NSOFCs.

Surgical simulators are crucial in early craniofacial and plastic surgical training, necessitating synthetic materials that accurately replicate tissue properties. Recent critiques of our lab's currently deployed silicone surrogate have highlighted numerous areas for improvement. To further refine our models, our group's objective is to find a composition of materials that is closest in fidelity to native oral mucosa during surgical rehearsal by expert craniofacial surgeons. Fifteen platinum silicone-based surrogate samples were constructed with variable hardness and slacker percentages. These samples underwent evaluation of tactile sensation, hardness, needle puncture, cut resistance, suture retention, defect repair, and tensile elasticity. Expert craniofacial surgeon evaluators provided focused qualitative feedback on selected top-performing samples for further assessment and statistical comparisons. An evaluation revealed surrogate characteristics that were satisfactory and exhibited good performance. Sample 977 exhibited the highest performance, and comparison with the original surrogate (sample 810) demonstrated significant improvements in critical areas, emphasizing the efficacy of the refined composition. The study identified a silicone composition that directly addresses the feedback received by our team's original silicone surrogate. The study underscores the delicate balance between biofidelity and practicality in surgical simulation. The need for ongoing refinement in surrogate materials is evident to optimize training experiences for early surgical learners. [ABSTRACT FROM AUTHOR]

Purpose: In craniofacial surgery, the stable fixation of transposed bone segments is crucial in order to ensure good long-term results. The use of absorbable material in fixation avoids the need for a second surgery, which would otherwise be required to remove osteosynthesis material. The authors of the present manuscript have already demonstrated that absorbable sutures ensure the stable fixation of bone segments in patients up to 24 months of age. However, it has thus far remained unclear whether stable fixation is possible in older patients by using only absorbable sutures due to the slower bone remodelling and prolonged healing time in this cohort. Method: For the present study, osteosynthesis was performed in 50 patients ranging from 25.7 to 192.1 months of age (mean, 61.4 ± 21.7 months) using solely absorbable sutures (PDS II®, Ethicon, Germany). Post-operative stability and possible restrictions—such as foreign body reactions—were evaluated within clinical and radiological routine follow-ups. Results: All children demonstrated clinically and radiologically stable osteosynthesis both directly post-operatively and in follow-ups. No significant foreign body reaction could be seen. Conclusion: The present study demonstrates—for the first time—that absorbable sutures with a longer absorption period are also very well suited for the fixation of bone segments in patients over 24 months of age. The sole use of absorbable sutures in children over 24 months of age is a safe procedure with nearly no foreign body reactions. The procedure enables stable and highly cost-effective osteosynthesis without altering the osteotomy design. [ABSTRACT FROM AUTHOR]

Introduction: Craniofacial penetrating injuries are not a rare sight in the career of oral and maxillofacial surgeons and trainees, but bizarre craniomaxillofacial sharp injuries caused by peculiar foreign bodies to the head and neck region, complicating and obscuring the vital structures, are seldom found. Foreign bodies such as lunch boxes, wooden branches or twigs are peculiarly associated with penetrating/perforating craniofacial severe impaled injuries with dramatic consequences. Case Report: Three cases are reported, with elaborate descriptions of the site, kind, and severity of the injuries. Cases 1 and 3, wooden impalement injuries into the neck region and sensitive orbital region, respectively, necessitating immediate surgical retrieval as in both cases. In case 2, 4-year old sustained an injury with a sharp rim of the lunch box, obscuring the entire craniofacial region and impeding the primary care and assessment. Cases represent the peculiarity of the injuries caused by unusual foreign bodies and how their uniqueness demanded a different surgical intervention. The need for a multidisciplinary approach is crucial to managing these injuries in areas with a high degree of specialization overlap, such as the craniofacial region. Conclusion: We give an overview of the diagnosis and treatment of penetrating foreign body trauma encountered in our department. Every foreign body penetrating trauma demands a formulation of a different surgical plan and stands as a challenge for the treating surgeons. Adequate radiology knowledge, detection, vigilant clinical assessment, and tension-free closure are a few of the important aspects for the ideal management of penetrating foreign body trauma. [ABSTRACT FROM AUTHOR]

The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 46th Annual Meeting at Cincinnati Children's Hospital Medical Center in Cincinnati, Ohio on October 10th–12th, 2023. On the first day of the meeting, Drs. Sally Moody and Justin Cotney were each honored with the SCGDB Distinguished Scientist Awards for their exceptional contributions to the field of craniofacial biology. The following two days of the meeting featured five sessions that highlighted new discoveries in signaling and genomic mechanisms regulating craniofacial development, human genetics, translational and regenerative approaches, and clinical management of craniofacial differences. Interactive workshops on spatial transcriptomics and scientific communication, as well as a poster session facilitated meaningful interactions among the 122 attendees representing diverse career stages and research backgrounds in developmental biology and genetics, strengthened the SCGDB community. [ABSTRACT FROM AUTHOR]

Loss of function variations in the dual specificity tyrosine-phosphorylation-regulated kinase 1 A (DYRK1A) gene are associated with craniofacial malformations in humans. Here we characterized the effects of deficient DYRK1A in craniofacial development using a developmental model, Xenopus laevis. Dyrk1a mRNA and protein were expressed throughout the developing head and both were enriched in the branchial arches which contribute to the face and jaw. Consistently, reduced Dyrk1a function, using dyrk1a morpholinos and pharmacological inhibitors, resulted in orofacial malformations including hypotelorism, altered mouth shape, slanted eyes, and narrower face accompanied by smaller jaw cartilage and muscle. Inhibition of Dyrk1a function resulted in misexpression of key craniofacial regulators including transcription factors and members of the retinoic acid signaling pathway. Two such regulators, sox9 and pax3 are required for neural crest development and their decreased expression corresponds with smaller neural crest domains within the branchial arches. Finally, we determined that the smaller size of the faces, jaw elements and neural crest domains in embryos deficient in Dyrk1a could be explained by increased cell death and decreased proliferation. This study is the first to provide insight into why craniofacial birth defects might arise in humans with variants of DYRK1A. [Display omitted] • In humans, DYRK1A variants are associated with craniofacial differences. • Dyrk1a is expressed in the developing craniofacial tissues of Xenopus embryos. • Knockdown of Dyrk1a results in craniofacial malformations in Xenopus embryos. • Decreased Dyrk1a function perturbs expression of craniofacial regulators. • Decreased Dyrk1a function increases cell death in the developing face. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Vigilant monitoring for postoperative complications, including bleeding and dysrhythmia, is crucial in patients with craniosynostosis syndromes like Crouzon syndrome undergoing craniofacial surgery, with a thorough evaluation, including coagulation tests, assisting in diagnosing underlying conditions such as von Willebrand disease subtype 1 to inform appropriate management strategies. Crouzon syndrome is a rare genetic disorder affecting craniofacial structures. Its etiology is the premature fusion of cranial sutures. The LeFort III advancement surgery is a commonly used approach to correct malformations related to midface hypoplasia. Complications following surgical treatment of craniosynostosis and craniofacial syndromes can include both intracranial and extracranial problems. Reporting of this syndrome and the surgery complications, in addition to consideration of other differential diagnoses, can help improve the treatment plan and surgery outcomes. The aim of the article is to report a 14‐year‐old female with Crouzon syndrome who underwent the modified LeFort III osteotomy and developed unexpected massive bleeding during the surgery. Post‐surgery, she experienced complications including dysrhythmia, hypothermia, and cyanosis. Treatment included fluid therapy, blood transfusions, and antibiotic therapy for suspected septic shock. Differential diagnosis was disseminated intravascular coagulation but was ruled out. Post‐discharge, coagulation tests suggested von Willebrand disease subtype 1 as the diagnosis. Excessive bleeding during surgery for craniosynostosis syndromes is a significant and concerning issue in the surgical management of Crouzon syndrome. For patients with von Willebrand disease who are candidates for elective surgeries, von Willebrand factor concentrates or recombinant von Willebrand factor can be used. [ABSTRACT FROM AUTHOR]

Apical expansion of calvarial osteoblast progenitors from the cranial mesenchyme (CM) above the eye is integral to calvarial growth and enclosure of the brain. The cellular behaviors and signals underlying the morphogenetic process of calvarial expansion are unknown. Timelapse light-sheet imaging of mouse embryos revealed calvarial progenitors intercalate in 3D in the CM above the eye, and exhibit protrusive and crawling activity more apically. CM cells express noncanonicalWnt/planar cell polarity (PCP) core components and calvarial osteoblasts are bidirectionally polarized. We found non-canonical ligand Wnt5a-/- mutants have less dynamic cell rearrangements and protrusive activity. Loss of CM-restricted Wntless (CM-Wls), a gene required for secretion of all Wnt ligands, led to diminished apical expansion of Osx+ calvarial osteoblasts in the frontal bone primordia in a non-cell autonomousmanner without perturbing proliferation or survival. Calvarial osteoblast polarization, progressive cell elongation and enrichment for actin along the baso-apical axis were dependent on CM-Wnts. Thus, CM-Wnts regulate cellular behaviors during calvarial morphogenesis for efficient apical expansion of calvarial osteoblasts. These findings also offer potential insights into the etiologies of calvarial dysplasias. [ABSTRACT FROM AUTHOR]

Objective: To look at patients with -thalassemia's skeletal patterns. Study Design: Cross sectional, Observational. Setting: Karachi Medical and Dental College, Baqai Dental College Baqai Medical University, Husaini Institute of Heamatological Studies and Fatmid Foundation. Study Period: 2012 to 2020. Methods: Fifty patients with major thalassemia were voluntarily chosen at random, and 50 lateral cephalometric X-rays were taken using the Steiner Analysis inclusion criteria major Thalassemia Patient under 35 without any systemic disorders. exclusion criterion any additional forms of thalassemia, as well as other systemic illnesses such as heart disease, diabetes, and down syndrome, patient age is greater than 35. Results: Patients with 50 thalassemic patients have an average ANB angle of 4.8 degree. No patients fit into Skeletal Class III, as indicated by the ANB ranges for 21 (42%) patients being between 2 and 2 o (0 to 4 o) and for 29 (58%) patients being above 4 o degree. Conclusion: 42% of beta thalassemia patients with Class 1 skeletal and orthoganathism. In 58% of cases, Class II and mandibular retroganathism are present. and there were no patients in skeletal class III found. The effects of anemia are less severe in patients from Karachi's thalassemia community. [ABSTRACT FROM AUTHOR]

This retrospective study utilized the National Electronic Injury Surveillance System (NEISS) database to identify pediatric emergency department (ED) patients with playground-associated craniofacial injuries between January 2012 and December 2021. A total of 25 414 patients were identified. The majority of injuries occurred in preschool and elementary school–age children (90.3%) and patients were more commonly boys (59.3%). Injuries most often involved the head/scalp (52.4%), face (30.4%), and mouth (11.9%). Infant (32.7%) and teen (40.0%) injuries most commonly involved swings, whereas preschool (23.1%) and elementary school (28.1%) injuries were mostly associated with slides and climbers, respectively. Most patients were treated in the ED and discharged to home (96.5%), a small portion required hospitalization (1.6%), and one death was reported. Although the majority of the injuries were relatively minor and resulted in same-day discharges, these injuries can result in serious physical harm, emotional stress, and unexpected financial burdens. Proper education and supervision regarding safe play is important to prevent these injuries. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to evaluate the content, reliability and quality levels of YouTube™ videos regarding craniosynostosis for parents' information. Methods: A keyword search for 'craniosynostosis' was conducted on YouTube, and the uniform resource locators of the first 160 videos were initially recorded and evaluated. Ninety‐four videos that met the inclusion criteria were analysed. Each video received a score ranging from 0 to 9 points, classifying them as low‐content (0‐3), moderate‐content (4‐6) and high‐content (7‐9). The reliability scores adapted from DISCERN and Global Quality Scale (GQS) scores were recorded. Results: The median content score for the videos was 4. According to the content scores, 34% of included videos (n = 32) were classified as low‐content, 60.6% (n = 57) as moderate‐content, and 5.3% (n = 5) as high‐content. The median reliability score for the videos was 3, and the median GQS score was 3. The reliability and quality levels of videos classified as high‐content and moderate‐content were significantly superior to low‐content videos (P <.05). Laypersons were identified as the most frequent source of information in the videos. However, most of the videos lacked information about syndromic/non‐syndromic forms and specific complications. The importance of early referral/timing of surgery and minimally invasive surgical treatment techniques was mentioned in all high‐content videos. Conclusion: The results of the present study suggest that YouTube™ in its current format, is not a fully trustable source for parents seeking information on craniosynostosis. Craniofacial units must increase the content, quality and reliability level of videos on craniosynostosis. [ABSTRACT FROM AUTHOR]

Abstract This case report describes the findings of craniofacial anomalies associated with dystocia in a mixed‐breed bitch. A bitch in labour was presented for evaluation of dystocia, and an emergency caesarean section was performed. Two pups with craniofacial abnormalities were delivered by hysterotomy. One pup was stillborn, with congenital anomalies including palatoschisis (cleft palate), cheiloschisis (cleft lip), an open fontanelle, and a narrow teardrop‐shaped skull. The second pup was delivered alive and had cheiloschisis. Craniofacial malformations are a reported cause of dystocia in the dog, usually due to obstruction. However, dystocia in the reported case is presumed to have developed because the pup's craniofacial malformations prevented stimulation of uterine contractions. To the authors’ knowledge, this is the first case report to describe craniofacial abnormalities affecting 100% of the litter and is the first known report to describe the relationship between craniofacial abnormalities and presumptive primary uterine inertia.

Abstract The aim was to develop and validate a German version of the FACE-Q paralysis module, a patient-reported outcome measure to assess health-related quality of life in adult patients with unilateral facial palsy. The FACE-Q craniofacial questionnaire, which includes the paralysis module, was translated. 213 patients with facial palsy completed the German FACE-Q paralysis along with the established FDI and FaCE questionnaires. Regression analyses were performed to examine the relationships between the different FACE-Q domains and patient and therapy characteristics. The FACE-Q scales had high internal consistency (Cronbach’s alpha all > 0.6). High correlations were found between the FACE-Q and the FDI and FaCE (mean rho = 0.5), as well as within the FACE-Q (mean rho = 0.522). Unifactorial influences were found for all domains except Breathing (all p 8 subdomains): Patients who received physical therapy scored lower in ten subdomains than those who did not (all p

Background: Facial surgeries require meticulous planning and outcome assessments, where facial analysis plays a critical role. This study introduces a new approach by utilizing three-dimensional (3D) imaging techniques, which are known for their ability to measure facial areas and volumes accurately. The purpose of this study is to introduce and evaluate a free web-based software application designed to take area and volume measurements on 3D models of patient faces. Methods: This study employed the online facial analysis software to conduct ten measurements on 3D models of subjects, including five measurements of area and five measurements of volume. These measurements were then compared with those obtained from the established 3D modeling software called Blender (version 3.2) using the Bland–Altman plot. To ensure accuracy, the intra-rater and inter-rater reliabilities of the web-based software were evaluated using the Intraclass Correlation Coefficient (ICC) method. Additionally, statistical assumptions such as normality and homoscedasticity were rigorously verified before analysis. Results: This study found that the web-based facial analysis software showed high agreement with the 3D software Blender within 95% confidence limits. Moreover, the online application demonstrated excellent intra-rater and inter-rater reliability in most analyses, as indicated by the ICC test. Conclusion: The findings suggest that the free online 3D software is reliable for facial analysis, particularly in measuring areas and volumes. This indicates its potential utility in enhancing surgical planning and evaluation in facial surgeries. This study underscores the software’s capability to improve surgical outcomes by integrating precise area and volume measurements into facial surgery planning and assessment processes.

Purpose: After oropharyngeal reconstruction surgery, excessive flap volume within the oral cavity may increase the risk of pharyngeal obstruction during sleep. This prospective observational study aimed to test a hypothesis that the skin-flap oropharyngeal reconstructive surgery increases nocturnal apnea-hypopnea index (nAHI, primary variable) after surgery. Methods: Adult patients undergoing oropharyngeal reconstruction surgery participated in this study. The hypothesis was tested by comparing the results of portable type 4 sleep study and craniofacial assessments with lateral head and neck computed tomography scout image before and after surgery. Multiple linear regression analyses were performed to identify predictors for nAHI increase after the surgery. Results: In 15 patients, a postoperative sleep study was performed at 41 (27, 59) (median (IQR)) days after the surgery. nAHI did not increase after the surgery (mean (95% CI), 13.0 (7.2 to 18.7) to 18.4 (10.2 to 26.6) events.hour−1, p = 0.277), while apnea index significantly increased after the surgery (p = 0.026). Use of the pedicle flap for the oropharyngeal reconstruction (p = 0.051), small mandible (p = 0.008), longer lower face (0.005), and larger tongue size (p = 0.008) were independent predictors for worsening of nAHI after surgery. Hospital stay was significantly longer in patients with the pedicle flap (n = 8) than in those with the free flap (n = 7) (p = 0.014), and the period of hospital stay was directly associated with increase of nAHI after surgery (r = 0.788, p < 0.001, n = 15). Conclusions: Oropharyngeal reconstruction surgery worsens sleep-disordered breathing in some patients with craniofacial and surgical risk factors. Trial registration: UMIN Clinical Trial Registry (UMIN000036260, March 22, 2019), https://rctportal.niph.go.jp/s/detail/um?trial_id=UMIN000036260 [ABSTRACT FROM AUTHOR]

Myriad options are available for plastic surgeons to perform soft-tissue analysis, which is vital to perioperative evaluation and research. Our objective is to compare the accuracy, precision, and efficiency of the available cephalometric modalities for conducting facial soft-tissue measurements. Twenty soft-tissue facial measurements were performed by 5 measurers with varying experiences on 5 adult subjects, using 6 methods—manual calipers, cone-beam CT, virtual reality (VR), 3D stereophotogrammetry, iPad-based 3D photogrammetry, and 2-dimensional photographs. Measurement sessions were timed and performed in triplicate, for a total of 9000 measurements. Intraclass correlation coefficient (ICC) was calculated for accuracy and one-way ANOVA was used for comparison. The coefficient of variation (CoV) was compared among groups to evaluate the precision of different methods by considering caliper measurements as the gold standard. ICC among raters was 0.932, indicating excellent reliability. VR was significantly faster than other methods (137 s vs. 217 s for caliper, p < 0.001). CoV was the highest for 2D photographs and the lowest for VR (11.0 vs. 6.4, p < 0.001). The CoV of the caliper was similar to that of other methods, except for 2D photography, which was significantly higher. Measurements with the greatest absolute difference from caliper measurements, across modalities, were those around the eyes (left to right exocanthion), tragion to antitragion, and tragion to exocanthion. 2D photography is not an accurate method for cephalometric measurements. VR had the lowest variation between measurements, and was the fastest and equivalent to caliper measurements in accuracy. For studies involving a large number of cephalometrics, VR measurements may be a good option to improve study throughput. [ABSTRACT FROM AUTHOR]

This pilot study evaluated enhanced milieu teaching with phonological emphasis (EMT + PE) parent training intervention delivered through telepractice and its impact on parent implementation, child speech outcomes, and child language outcomes. A multiple baseline design across behaviours was used to assess response to parent training and child outcomes. The intervention was delivered to four parents and their young children with repaired cleft palate. Speech production, receptive language, and expressive language were assessed prior to intervention. EMT + PE strategies including matched turns, modelling and expansions, and prompting/speech recasting were taught to parents using the teach-model-coach-review model. Social validity questionnaires were administered pre- and post-intervention to assess parents' rating of competence and confidence for managing their child's early development. Reliability and procedural fidelity were conducted. All parents increased their use of modelling and expansions, and prompting and speech recasting in response to training, as evidenced by large effect sizes. Children also responded positively to these strategies by increasing percentage of consonants correct (PCC) and target vocabulary, although PCC gains were less than observed in a prior hybrid telepractice and face-to-face intervention. Social validity measures indicated parents increased their confidence to provide intervention for their children. This pilot study indicated that effective parent training in EMT + PE strategies can be delivered through telepractice. [ABSTRACT FROM AUTHOR]

Introduction: Adipose-derived stem cells (ADSCs) have been subject of several studies due to their abundance, ease of preparation, and application in bone regeneration. We aim to compare effectiveness of alveolar reconstruction utilizing human cancellous freeze-dried graft (HCG) and beta tricalcium phosphate (BTP), both seeded with human ADSC (hADSC) and autologous bone graft (ABG). Material and Methods: A 5 × 5 mm alveolar defect in 36 male Wistar rats were treated using: ABG (C), HCG–hADSC (H1), and BTP–hADSC (H2). At 1 and 8 weeks after surgery, runt-related transcription factor 2 (RUNX2), alkaline phosphatase (ALP), osterix (OSX), and bone morphogenetic protein 2 (BMP2; g/mL) were quantified using immunohistochemistry, while bone tissue volume (BV, mm3), bone tissue volume fraction (BF, percentage), and trabecular thickness of bone (TT, mm) were assessed using micro-computed tomography (CT). Results: One week after surgery, H2 was higher in RUNX2, OSX, ALP, and BMP2 than C (P <.05). Only RUNX2 and OSX were found to be higher in H1 than C, while ALP and BMP2 were higher in H2 than H1. Micro-CT revealed that H2 had a higher TT than C and C had a higher TT than H1 (P <.05). Eight weeks after surgery, both H2 and H1 was higher in RUNX2, OSX, ALP, and BMP2 than C (P <.05). RUNX2 and BMP2 were found to be higher in H1 than H2. Micro-CT revealed that H2 had higher BV and TT than C and H1 (P <.05). Conclusions: Exogenous hADSC strengthened the effectiveness of HCG and BTP to accelerate osteogenesis, osteoconduction, and osteoinduction. The latter was the most successful in bone formation, followed by HCG and ABG. [ABSTRACT FROM AUTHOR]

The aim was to develop and validate a German version of the FACE-Q paralysis module, a patient-reported outcome measure to assess health-related quality of life in adult patients with unilateral facial palsy. The FACE-Q craniofacial questionnaire, which includes the paralysis module, was translated. 213 patients with facial palsy completed the German FACE-Q paralysis along with the established FDI and FaCE questionnaires. Regression analyses were performed to examine the relationships between the different FACE-Q domains and patient and therapy characteristics. The FACE-Q scales had high internal consistency (Cronbach's alpha all > 0.6). High correlations were found between the FACE-Q and the FDI and FaCE (mean rho = 0.5), as well as within the FACE-Q (mean rho = 0.522). Unifactorial influences were found for all domains except Breathing (all p < 0.05). Multivariate independent predictors were found for some FACE-Q domains. Most influential predictors (> 8 subdomains): Patients who received physical therapy scored lower in ten subdomains than those who did not (all p < 0.05). Patients who had surgery scored lower in nine subdomains than patients without surgery (all p < 0.05). The German version of the FACE-Q Paralysis Module can now be used as a patient-reported outcome instrument in adult patients with facial nerve palsy. [ABSTRACT FROM AUTHOR]

Themechanistic target of rapamycin (mTOR) coordinates metabolism and cell growth with environmental inputs.mTOR forms two functional complexes: mTORC1 and mTORC2. Proper development requires both complexes but mTORC1 has unique roles in numerous cellular processes, including cell growth, survival and autophagy. Here, we investigate the function of mTORC1 in craniofacial development. We created a zebrafish raptor mutant via CRISPR/Cas9, to specifically disrupt mTORC1. The entire craniofacial skeleton and eyes were reduced in size in mutants; however, overall body length and developmental timing were not affected. The craniofacial phenotype associates with decreased chondrocyte size and increased neural crest cell death. We found that autophagy is elevated in raptor mutants. Chemical inhibition of autophagy reduced cell death and improved craniofacial phenotypes in raptor mutants. Genetic inhibition of autophagy, via mutation of the autophagy gene atg7, improved facial phenotypes in atg7;raptor double mutants, relative to raptor single mutants. We conclude that finely regulated levels of autophagy, via mTORC1, are crucial for craniofacial development. [ABSTRACT FROM AUTHOR]

Background: Maxillary hypoplasia and mandibular asymmetry may be corrected with orthognathic surgery after growth completion. For most stable results, some cases may require segmental Le Fort I osteotomies. Unfortunately, Invisalign's software (6.0 version) still has some inherent limitations in predicting outcomes for complex surgeries. This study explores the potential of aligners, particularly in multiple-piece maxillary osteotomies in both cleft and non-cleft patients. Method: Thirteen patients who underwent pre-surgical treatment with Invisalign were retrospectively matched in terms of diagnosis, surgical procedure, and orthodontic complexity with thirteen patients treated using fixed appliances. Virtual curves following the lower arch were employed to guide the correct pre-surgical positions of the upper teeth with a simple superimposition technique. The amount of impressions required in both groups to achieve satisfactory pre-surgical alignment of the segmented arches was compared. Results: one or no refinement phases were needed in the Invisalign group to reach an acceptable pre-surgical occlusion, while the amount of pre-surgical impressions needed to reach adequate coordination with fixed appliance treatment was slightly higher (p > 0.05). Conclusions: it appears that clear aligner could serve as an effective treatment for individuals necessitating segmental Le Fort I osteotomies when aided by the suggested simple superimposition approach. [ABSTRACT FROM AUTHOR]

Background: Facial surgeries require meticulous planning and outcome assessments, where facial analysis plays a critical role. This study introduces a new approach by utilizing three-dimensional (3D) imaging techniques, which are known for their ability to measure facial areas and volumes accurately. The purpose of this study is to introduce and evaluate a free web-based software application designed to take area and volume measurements on 3D models of patient faces. Methods: This study employed the online facial analysis software to conduct ten measurements on 3D models of subjects, including five measurements of area and five measurements of volume. These measurements were then compared with those obtained from the established 3D modeling software called Blender (version 3.2) using the Bland–Altman plot. To ensure accuracy, the intra-rater and inter-rater reliabilities of the web-based software were evaluated using the Intraclass Correlation Coefficient (ICC) method. Additionally, statistical assumptions such as normality and homoscedasticity were rigorously verified before analysis. Results: This study found that the web-based facial analysis software showed high agreement with the 3D software Blender within 95% confidence limits. Moreover, the online application demonstrated excellent intra-rater and inter-rater reliability in most analyses, as indicated by the ICC test. Conclusion: The findings suggest that the free online 3D software is reliable for facial analysis, particularly in measuring areas and volumes. This indicates its potential utility in enhancing surgical planning and evaluation in facial surgeries. This study underscores the software's capability to improve surgical outcomes by integrating precise area and volume measurements into facial surgery planning and assessment processes. [ABSTRACT FROM AUTHOR]

Background: Split hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1, that are associated with SHFM phenotypes. One individual also presented with a high arch palate. Studies in vertebrates indicate that PRDM1 is important for development of the skull; however, prior to our study, human variants in PRDM1 had not been associated with craniofacial anomalies. Methods: Using transient mRNA overexpression assays in prdm1a−/− mutant zebrafish, we tested whether the PRDM1 SHFM variants were functional and could lead to a rescue of the craniofacial defects observed in prdm1a−/− mutants. We also mined previously published CUT&RUN and RNA‐seq datasets that sorted EGFP‐positive cells from a Tg(Mmu:Prx1‐EGFP) transgenic line that labels the pectoral fin, pharyngeal arches, and dorsal part of the head to examine Prdm1a binding and the effect of Prdm1a loss on craniofacial genes. Results: The prdm1a−/− mutants exhibit craniofacial defects including a hypoplastic neurocranium, a loss of posterior ceratobranchial arches, a shorter palatoquadrate, and an inverted ceratohyal. Injection of wildtype (WT) hPRDM1 in prdm1a−/− mutants partially rescues the palatoquadrate phenotype. However, injection of each of the three SHFM variants fails to rescue this skeletal defect. Loss of prdm1a leads to a decreased expression of important craniofacial genes by RNA‐seq, including emilin3a, confirmed by hybridization chain reaction expression. Other genes including dlx5a/dlx6a, hand2, sox9b, col2a1a, and hoxb genes are also reduced. Validation by real‐time quantitative PCR in the anterior half of zebrafish embryos failed to confirm the expression changes suggesting that the differences are enriched in prx1 expressing cells. Conclusion: These data suggest that the three SHFM variants are likely not functional and may be associated with the craniofacial defects observed in the humans. Finally, they demonstrate how Prdm1a can directly bind and regulate genes involved in craniofacial development. [ABSTRACT FROM AUTHOR]

Key Clinical Message Vigilant monitoring for postoperative complications, including bleeding and dysrhythmia, is crucial in patients with craniosynostosis syndromes like Crouzon syndrome undergoing craniofacial surgery, with a thorough evaluation, including coagulation tests, assisting in diagnosing underlying conditions such as von Willebrand disease subtype 1 to inform appropriate management strategies. Abstract Crouzon syndrome is a rare genetic disorder affecting craniofacial structures. Its etiology is the premature fusion of cranial sutures. The LeFort III advancement surgery is a commonly used approach to correct malformations related to midface hypoplasia. Complications following surgical treatment of craniosynostosis and craniofacial syndromes can include both intracranial and extracranial problems. Reporting of this syndrome and the surgery complications, in addition to consideration of other differential diagnoses, can help improve the treatment plan and surgery outcomes. The aim of the article is to report a 14‐year‐old female with Crouzon syndrome who underwent the modified LeFort III osteotomy and developed unexpected massive bleeding during the surgery. Post‐surgery, she experienced complications including dysrhythmia, hypothermia, and cyanosis. Treatment included fluid therapy, blood transfusions, and antibiotic therapy for suspected septic shock. Differential diagnosis was disseminated intravascular coagulation but was ruled out. Post‐discharge, coagulation tests suggested von Willebrand disease subtype 1 as the diagnosis. Excessive bleeding during surgery for craniosynostosis syndromes is a significant and concerning issue in the surgical management of Crouzon syndrome. For patients with von Willebrand disease who are candidates for elective surgeries, von Willebrand factor concentrates or recombinant von Willebrand factor can be used.