Cranial vault reconstructions are a common craniofacial procedure utilized to treat chronically elevated intracranial pressure and its sequelae for children with craniosynostosis. These surgeries often involve split-thickness autologous grafts to facilitate intracranial volume expansion. The hinge craniotomy was developed by neurosurgeons in the early 2000s as an alternative to the hemicraniectomy to allow for greater space and simplified re-securing of the bone flap. In our report, we introduce a novel application of hinge craniotomy in total cranial vault reconstruction for a pediatric patient with microcephaly secondary to congenital cytomegalovirus infection. We performed bilateral barrel stave cuts to the occipital bone as well as an undercut along the midline keel to form a hinge craniotomy. Complex reconstruction followed to augment intracranial volume and restructure the cranial vault. This technique maximized intracranial volume expansion while minimizing the need for prolonged reconstruction. It also allowed for retained vascularization of the bone flap by maintaining the connection with the intact cranial base and pericranium to further support bony healing. Our study presents a novel utilization of hinge craniotomy, using the occipital keel as a natural hinge, to create ample space during cranial vault reconstruction. This technique offers potential advantages in terms of intracranial volume expansion and bony healing.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

UNASSIGNED: Fibrous dysplasia is a benign fibro-osseous lesion where normal bone is replaced with immature dysplastic woven bone and fibrous tissue. Fibrous dysplasia has the potential to involve multiple bones of the craniofacial area in a rare condition. Management of this involvement type should be assessed carefully.
UNASSIGNED: Here, we report a 52-year-old man with progressive and bilateral frontal headache. The radio/pathologic diagnosis revealed fibrous dysplasia of paranasal sinuses with anterior skull-base extension and pneumocephalus. The patient underwent a craniotomy, and 2 weeks after the procedure, the symptoms were alleviated without any complications.
UNASSIGNED: in case of fibrous dysplasia, patients with new onset and/or mild symptoms may have extensive lesions in multiple craniofacial bones.

Human genetic studies have nominated Cadherin-like and PC-esterase Domain-containing 1 (CPED1) as a candidate target gene mediating bone mineral density (BMD) and fracture risk heritability. Recent efforts to define the role of CPED1 in bone in mouse and human models have revealed complex alternative splicing and inconsistent results arising from gene targeting, making its function in bone difficult to interpret. To better understand the role of CPED1 in adult bone mass and morphology, we turned to zebrafish, an emerging model for orthopaedic research. We analyzed two different cped1 mutant lines and performed deep phenotyping to characterize more than 200 measures of adult vertebral, craniofacial, and lean tissue morphology. We also examined alternative splicing of zebrafish cped1 and gene expression in various cell/tissue types. Our studies fail to support an essential role of cped1 in adult zebrafish bone. Specifically, homozygous mutants for both cped1 mutant alleles, which are expected to result in loss-of-function and impact all cped1 isoforms, exhibited no significant differences in the measures examined when compared to their respective wildtype controls, suggesting that cped1 does not significantly contribute to these traits. We identified sequence differences in critical residues of the catalytic triad between the zebrafish and mouse orthologs of CPED1, suggesting that differences in key residues, as well as distinct alternative splicing, could underlie different functions of CPED1 orthologs in the two species. Our studies demonstrate that cped1 is not required for normal adult zebrafish bone mass, lean mass, or bone and lean tissue morphology, adding to evidence that variants at 7q31.31 can act independently of CPED1 to influence BMD and fracture risk.

Introduction Traumatic facial injuries, leading to facial fractures represent a significant subset of traumatic events, with age emerging as a crucial determinant influencing both their etiology and outcomes. Understanding the age-related patterns of traumatic facial fractures is essential for developing targeted prevention and management strategies. In this context, the Appalachian tri-state area stands as an underexplored region concerning this issue, necessitating comprehensive research to elucidate the nuances of age-related traumatic facial fractures within this geographic context. Methods This retrospective study delves into the age-related patterns of traumatic facial fractures within the Appalachian tri-state area, drawing upon patient records from Cabell Huntington Hospital and Saint Mary\'s Medical Center spanning a five-year period. The study cohort encompasses 623 patients categorized into three age groups: individuals aged <22 years, those aged 22-65 years, and individuals over 65 years. Data analysis involves meticulous examination of mechanisms of injury, injury severity scores (ISSs), hospital length of stay, and the prevalence of surgical interventions across different age cohorts. Results Out of 623 patients, 104 (16.7%) were under 22 years old, 367 (58.9%) were between 22 and 65 years old, and 152 (24.4%) were over 65 years old. The majority were male (70%). Falls were the most common cause of facial fractures in patients over 65 (78%), while assaults were predominant in the 22-65 age group (24%), and motor vehicle collisions (MCVs) in those under 22 (34%). The median ISS and hospital stay durations were similar across age groups. 28% of patients underwent surgery, with significant variation among age groups (p<0.001): 38% for <22 years, 33% for 22-65 years, and 11% for >65 years. Mandibular fractures were more prevalent in younger patients, with rates of 12% for <22 years compared to 5.3% for >65 years. Logistic regression analysis revealed that patients aged 22-65 had 4.10 times higher odds (95% CI=2.38, 7.45, p<0.001) of undergoing surgery, while those under 22 had 5.14 times higher odds (95% CI=2.73, 10.0, p<0.001) compared to those over 65. Significant associations were found for mandibular and bilateral mandibular outcomes in patients aged 22-65 years. Discussion These findings underscore the imperative for tailored prevention strategies and age-specific treatment protocols to optimize patient outcomes. Fall prevention initiatives for the elderly and interventions addressing sports-related injuries for younger individuals are paramount. Moreover, the study highlights the necessity of specialized care protocols for elderly patients to minimize hospital stay durations and manage age-related comorbidities effectively. Moving forward, further research should address limitations, validate findings, and explore the efficacy of specific interventions, thereby paving the way for enhanced preventive measures and management strategies tailored to the diverse age cohorts affected by traumatic facial fractures in the Appalachian region.

UNASSIGNED: To determine the prevalence of maxillofacial fractures associated with persistent CSF leak, and to assess its bearing on clinical outcomes of consecutive patients managed at our centre.
UNASSIGNED: This was a retrospective cross-sectional study. The medical records of patients over 11-year period were analysed for age, gender, etiology of injuries, duration between injury and presentation to the hospital, types of facial fracture and their treatments, treatment done to control CSF leak, and complication(s). Descriptive and bivariate statistics were computed.
UNASSIGNED: Overall, 1473 patients were evaluated, 66 (4.5%) presented with craniofacial injuries associated with persistent CSF leak after 5 days of non-surgical treatment. Males (92.5%, P= 0.0000) and those in the 21 to 30 years age group (59.1 %, P=0.01) were predominant. The most common (68.2%) type of fracture combination was Le Fort I, II and III, NOE, zygomatic complex and mandible. The commonest clinical presentation of CSF leak was rhinorrhea only, in 66.7% of patients (P= 0.001).
UNASSIGNED: This study shows that the prevalence of maxillofacial fractures associated with persistent CSF leak was low, which was 4.5% of patients that presented with persistent CSF leak and 84.9% of the cases resolved after treatment of the various maxillofacial fractures.

UNASSIGNED: 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.
UNASSIGNED: 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.

OBJECTIVE: Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic cause of most nonsyndromic cases remains unknown.
METHODS: The authors analyzed exome or RNA sequencing data from 876 children with nonsyndromic CS, including 291 case-parent trios and 585 additional probands. The authors also utilized the GeneMatcher platform and the Gabriella Miller Kids First genome sequencing project to identify additional CS patients with AXIN1 mutations.
RESULTS: The authors describe 11 patients with nonsyndromic CS harboring rare, damaging mutations in AXIN1, an inhibitor of Wnt signaling. AXIN1 regulates signaling upstream of key mediators of osteoblast differentiation. Three of the 6 mutations identified in trios occurred de novo in the proband, while 3 were transmitted from unaffected parents. Patients with nonsyndromic CS were highly enriched for mutations in AXIN1 compared to both expectation (p = 0.0008) and exome sequencing data from > 76,000 healthy controls (p = 2.3 × 10-6), surpassing the thresholds for genome-wide significance.
CONCLUSIONS: These findings describe the first phenotype associated with mutations in AXIN1, with mutations identified in approximately 1% of nonsyndromic CS cases. The results strengthen the existing link between Wnt signaling and maintenance of cranial suture patency and have implications for genetic testing in families with CS.

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.

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. Time-lapse 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 non-canonical Wnt/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 autonomous manner 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.