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Keywords = craniofacial deformity

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11 pages, 8353 KiB  
Case Report
Aesthetic and Functional Rehabilitation in Juvenile Ossifying Fibroma: A Case Report
by Nefeli Katanaki and Ioanna Pouliezou
Reports 2025, 8(3), 122; https://doi.org/10.3390/reports8030122 - 26 Jul 2025
Viewed by 152
Abstract
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 [...] Read more.
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
(This article belongs to the Section Dentistry/Oral Medicine)
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13 pages, 2839 KiB  
Article
Cranial Vault Deformation and Its Association with Mandibular Deviation in Patients with Facial Asymmetry: A CT-Based Study
by Mayuko Nishimura, Chie Tachiki, Taiki Morikawa, Dai Ariizumi, Satoru Matsunaga, Keisuke Sugahara, Yasuo Aihara, Akira Watanabe, Akira Katakura, Takakazu Kawamata and Yasushi Nishii
Diagnostics 2025, 15(13), 1702; https://doi.org/10.3390/diagnostics15131702 - 3 Jul 2025
Viewed by 388
Abstract
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 [...] Read more.
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
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12 pages, 796 KiB  
Article
Enhancing Predictive Tools for Skeletal Growth and Craniofacial Morphology in Syndromic Craniosynostosis: A Focus on Cranial Base Variables
by Lantian Zheng, Norli Anida Abdullah, Norlisah Mohd Ramli, Nur Anisah Mohamed, Mohamad Norikmal Fazli Hisam and Firdaus Hariri
Diagnostics 2025, 15(13), 1640; https://doi.org/10.3390/diagnostics15131640 - 27 Jun 2025
Viewed by 355
Abstract
Background/Objectives: Patients with syndromic craniosynostosis (SC) pose a significant challenge for post-operational outcomes due to the variability in craniofacial deformities and gain-of-function characteristics. This study aims to develop validated predictive tools using stable cranial base variables to predict changes in the midfacial [...] Read more.
Background/Objectives: Patients with syndromic craniosynostosis (SC) pose a significant challenge for post-operational outcomes due to the variability in craniofacial deformities and gain-of-function characteristics. This study aims to develop validated predictive tools using stable cranial base variables to predict changes in the midfacial region and explore the craniofacial morphology among patients with SC. Methods: This study involved 17 SC patients under 12 years old, 17 age-matched controls for morphological analysis, and 21 normal children for developing craniofacial predictive models. A stable cranial base and changeable midfacial variables were analyzed using the Mann–Whitney U test. Pearson correlation identified linear relationships between the midface and cranial base variables. Multicollinearity was checked before fitting the data with multiple linear regression for growth prediction. Model adequacy was confirmed and the 3-fold cross-validation ensured results reliability. Results: Patients with SC exhibited a shortened cranial base, particularly in the middle cranial fossa (S-SO), and a sharper N-S-SO and N-SO-BA angle, indicating a downward rotation and kyphosis. The midface length (ANS-PNS) and zygomatic length (ZMs-ZTi) were significantly reduced, while the midface width (ZFL-ZFR) was increased. Regression models for the midface length, width, and zygomatic length were given as follows: ANS-PNS = 23.976 + 0.139 S-N + 0.545 SO-BA − 0.120 N-S-BA + 0.078 S-SO-BA + 0.051 age (R2 = 0.978, RMSE = 1.058); ZFL-ZFR = −15.618 + 0.666 S-N + 0.241 N-S-BA + 0.155 S-SO-BA + 0.121 age (R2 = 0.903, RMSE = 3.158); and ZMs-ZTi = −14.403 + 0.765 SO-BA + 0.266 N-S-BA + 0.111 age (R2 = 0.878, RMSE = 3.720), respectively. Conclusions: The proposed models have potential applications for midfacial growth estimation in children with SC. Full article
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9 pages, 275 KiB  
Review
Augmented Reality Integration in Surgery for Craniosynostoses: Advancing Precision in the Management of Craniofacial Deformities
by Divya Sharma, Adam Matthew Holden and Soudeh Nezamivand-Chegini
J. Clin. Med. 2025, 14(12), 4359; https://doi.org/10.3390/jcm14124359 - 19 Jun 2025
Viewed by 430
Abstract
Craniofacial deformities, particularly craniosynostosis, present significant surgical challenges due to complex anatomy and the need for individualised, high-precision interventions. Augmented reality (AR) has emerged as a promising tool in craniofacial surgery, offering enhanced spatial visualisation, real-time anatomical referencing, and improved surgical accuracy. This [...] Read more.
Craniofacial deformities, particularly craniosynostosis, present significant surgical challenges due to complex anatomy and the need for individualised, high-precision interventions. Augmented reality (AR) has emerged as a promising tool in craniofacial surgery, offering enhanced spatial visualisation, real-time anatomical referencing, and improved surgical accuracy. This review explores the current and emerging applications of AR in preoperative planning, intraoperative navigation, and surgical education within paediatric craniofacial surgery. Through a literature review of peer-reviewed studies, we examine how AR platforms, such as the VOSTARS system and Microsoft HoloLens, facilitate virtual simulations, precise osteotomies, and collaborative remote guidance. Despite demonstrated benefits in feasibility and accuracy, widespread clinical adoption is limited by technical, ergonomic, financial, and training-related challenges. Future directions include the integration of artificial intelligence, haptic feedback, and robotic assistance to further augment surgical precision and training efficacy. AR holds transformative potential for improving outcomes and efficiency in craniofacial deformity correction, warranting continued research and clinical validation. Full article
(This article belongs to the Special Issue Craniofacial Surgery: State of the Art and the Perspectives)
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15 pages, 1281 KiB  
Article
Anterior Tooth Inclination Between Skeletal Class II and III Malocclusions After Surgical Orthodontic Treatment
by Hiromi Tomaru, Chie Tachiki, Yu Nakamura, Dai Ariizumi, Satoru Matsunaga, Keisuke Sugahara, Akira Watanabe, Akira Katakura and Yasushi Nishii
Diagnostics 2025, 15(12), 1553; https://doi.org/10.3390/diagnostics15121553 - 18 Jun 2025
Viewed by 340
Abstract
Background/Objectives: Anterior tooth inclination plays a critical role in treatment planning for surgical orthodontic cases. However, post-treatment outcomes in patients with jaw deformities often deviate from cephalometric values. This study aimed to compare anterior tooth inclination and skeletal morphology among patients with Class [...] Read more.
Background/Objectives: Anterior tooth inclination plays a critical role in treatment planning for surgical orthodontic cases. However, post-treatment outcomes in patients with jaw deformities often deviate from cephalometric values. This study aimed to compare anterior tooth inclination and skeletal morphology among patients with Class II and Class III malocclusions and to establish reference values for individualized treatment plans. Methods: A total of 122 patients (Class II: n = 40; Class III: n = 41; Class I: n = 41 as a control) were retrospectively analyzed. Cephalometric parameters, including U1 to FH and L1 to MP, were measured pre- and post-treatment. Group differences were analyzed using one-way ANOVA and Tukey’s multiple comparison test. Multiple regression analysis was used to establish prediction models for anterior tooth inclination. The threshold for statistical significance was set at p < 0.05. Results: Post-treatment, upper anterior teeth were more lingually inclined in Class II patients and more labially inclined in Class III patients compared to Class I controls (U1 to FH: Class II, 106.8°; Class III, 120.4°; Class I, 111.1°; p < 0.01). Lower anterior teeth were more lingually inclined in Class III patients compared to Class I patients (L1 to MP: 84.9°; p < 0.01). Regression models demonstrated good predictive value (R2 > 0.5) in non-extraction cases. Conclusions: Regression equations developed in this study, alongside the cephalometric averages of Class I individuals, may offer reliable reference values tailored to individual craniofacial morphology, contributing to optimized treatment planning in surgical orthodontic cases. Full article
(This article belongs to the Section Clinical Diagnosis and Prognosis)
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18 pages, 1496 KiB  
Review
Advancing Auricular Reconstruction: The Evolution and Outcomes of Auricular Reconstruction Using a Porous Polyethylene (PPE) Framework
by Sara M. Hussein, Basel A. Sharaf, Samir Mardini and Waleed Gibreel
J. Clin. Med. 2025, 14(12), 4116; https://doi.org/10.3390/jcm14124116 - 10 Jun 2025
Viewed by 544
Abstract
Background/Objectives Auricular reconstruction poses significant surgical challenges in congenital and post-traumatic cases. Porous polyethylene (PPE) implants have emerged as a biocompatible alternative to the traditional autologous rib cartilage frames, offering less morbidity and a potentially stable framework. Here, we summarize the current evidence [...] Read more.
Background/Objectives Auricular reconstruction poses significant surgical challenges in congenital and post-traumatic cases. Porous polyethylene (PPE) implants have emerged as a biocompatible alternative to the traditional autologous rib cartilage frames, offering less morbidity and a potentially stable framework. Here, we summarize the current evidence of the use of PPE auricular implants. Methods: A literature search was performed in accordance with PRISMA guidelines across several databases. Studies reporting outcomes of PPE implants in auricular reconstruction were included. Data were extracted on patient characteristics, operative details, and complication rates, along with any required interventions to address complications. Complications were classified as minor or major based on their management strategy. Results: Of 544 screened studies, 14 studies representing 1036 patients were included. PPE implant use was generally linked with favorable esthetic outcomes and high patient satisfaction (80%). Study-to-study variation in complication rates was notable, with some complication rates as high as 44% in the early 1990s. By the early 2000s, advancements in surgical methods—particularly the use of temporoparietal fascia (TPF) flaps and other flaps for optimal soft tissue coverage—had markedly reduced complication rates, with recent studies reporting rates as low as 7%. Implant exposure (6.7%) and implant fractures (ranging from 1.6% to 3.2%) were the most frequently reported problems. Conclusions: PPE auricular implants, despite decades of availability, have faced limited global adoption due to concerns over complications and longevity. Advances in surgical techniques have significantly reduced complication rates (<7%), making PPE implants a viable early intervention with favorable esthetics and negligible donor-site morbidity. Full article
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17 pages, 2534 KiB  
Article
Spatiotemporal Dynamics in the Burden of Lip and Oral Cavity Cancer and Attributable Risk Factors in Asia (1990–2021)
by Dan Lin, Xinping Lu, Ri Ma and Xiaojuan Zeng
Healthcare 2025, 13(12), 1377; https://doi.org/10.3390/healthcare13121377 - 9 Jun 2025
Viewed by 651
Abstract
Background/Objectives: Lip and oral cavity cancer (LOC) remains a critical public health challenge in Asia. This study evaluated spatiotemporal trends and risk factor contributions to LOC-related disability-adjusted life years (DALYs) from 1990 to 2021 to inform evidence-based healthcare policies. Methods: Using Global Burden [...] Read more.
Background/Objectives: Lip and oral cavity cancer (LOC) remains a critical public health challenge in Asia. This study evaluated spatiotemporal trends and risk factor contributions to LOC-related disability-adjusted life years (DALYs) from 1990 to 2021 to inform evidence-based healthcare policies. Methods: Using Global Burden of Disease (GBD) 2021 data, we analyzed LOC DALYs stratified by age, gender, risk factors (smoking, alcohol use, tobacco chewing), and subregions in Asia. Temporal trends were quantified via estimated annual percentage change (EAPC) across five geographic regions and sociodemographic index (SDI) categories. Age–period–cohort (APC) modeling was used to assess age-specific risk distributions. Results: From 1990 to 2021, Asia’s age-standardized DALY rate (ASDR) for LOC marginally increased (EAPC: 0.0883, 95% CI: 0.0802–0.0963). The alcohol-related ASDR increased sharply (EAPC: 1.033, 95% CI: 1.00–1.06), whereas decreases were detected in the smoking- and tobacco chewing-attributable ASDRs. Pronounced upward trends were observed in South Asia and low/low-middle-SDI regions. Tobacco chewing was the primary risk factor for women and for the populations in South Asia and lower-SDI regions, whereas smoking dominated among men and those in other geographic regions and in higher-SDI areas. APC analysis revealed age-driven increases in ASDR, with alcohol use and tobacco chewing risk increased with age. Notably, the steepest ASDR increase occurred in individuals aged 20–25 years. Conclusions: The LOC burden in Asia reflects divergent risk factor dynamics. Policy strategies must prioritize geographic and demographic targeting: alcohol control in rapidly developing areas and intensified tobacco cessation programs in endemic zones. Early prevention efforts focusing on adolescents and tailored to subregional risk profiles are essential to mitigate future disease burden. Full article
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12 pages, 2370 KiB  
Case Report
18q Deletion (de Grouchy Syndrome) in Rural Romania: A Case Report and Healthcare System Challenges
by Mona Irina Matei and Raluca Maria Vlad
Reports 2025, 8(2), 84; https://doi.org/10.3390/reports8020084 - 1 Jun 2025
Viewed by 453
Abstract
This case study presents the long-term management of a 14-year-old male diagnosed with 18q deletion syndrome, also known as de Grouchy Syndrome, highlighting the challenges of treating rare chromosomal disorders in rural Romania. Background and Clinical Significance: 18q deletion syndrome, also known [...] Read more.
This case study presents the long-term management of a 14-year-old male diagnosed with 18q deletion syndrome, also known as de Grouchy Syndrome, highlighting the challenges of treating rare chromosomal disorders in rural Romania. Background and Clinical Significance: 18q deletion syndrome, also known as de Grouchy syndrome, is a chromosomal disorder caused by the deletion of a part of the long arm of chromosome 18. This syndrome is seen in one out of 10,000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders, and autoimmunity. Case Presentation: The patient’s condition was initially suspected at birth due to abnormal features and was later confirmed through genetic testing, revealing a 46,XY,del(18) karyotype. Key clinical features include craniofacial dysmorphism, delayed growth, congenital cardiac anomalies, developmental delay, severe neurological impairment, and multiple comorbidities such as endocrine dysfunction, dental anomalies, and orthopedic deformities. Despite early interventions such as cardiac surgery, the patient’s management has been challenged by limited access to specialized care. Conclusions: The case underscores the importance of timely genetic testing, early multidisciplinary care, and the role of family support in managing complex disorders. This report also addresses the gaps in healthcare accessibility in rural settings and emphasizes the need for improved infrastructure and genetic services. By comparing this case with the existing literature, the study explores the variability in clinical presentations of 18q deletion syndrome and advocates for more precise genetic testing to better understand its phenotypic spectrum. The patient’s ongoing challenges with medical and socio-economic factors emphasize the critical need for coordinated care and family support in managing rare genetic conditions. Full article
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10 pages, 3366 KiB  
Case Report
A 3D Printed Hydroxyapatite Implant for Temporal Hollowing Reconstruction: A Patient-Specific Approach
by Lukas B. Seifert, Alexander Aigner, Sead Abazi, Michel Beyer, Jokin Zubizarreta-Oteiza, Neha Sharma and Florian M. Thieringer
Craniomaxillofac. Trauma Reconstr. 2025, 18(2), 28; https://doi.org/10.3390/cmtr18020028 - 12 May 2025
Viewed by 1778
Abstract
Temporal hollowing, which is a depression in the temple region, often results from trauma, surgical interventions, or neurological conditions. This condition is frequently observed after the resection of encephaloceles, where it can cause esthetic and functional challenges due to temporalis muscle atrophy and [...] Read more.
Temporal hollowing, which is a depression in the temple region, often results from trauma, surgical interventions, or neurological conditions. This condition is frequently observed after the resection of encephaloceles, where it can cause esthetic and functional challenges due to temporalis muscle atrophy and nerve palsy. We present a case of a 21-year-old female patient who developed temporal hollowing and complete atrophy of the right temporalis muscle following an encephalocele resection in childhood. The patient also suffered from right-sided frontal nerve branch palsy. To address this complex deformity, a patient-specific implant (PSI) made of hydroxyapatite (HA) was digitally designed and produced using 3D printing technology. The postoperative course was uneventful, with the implant securely positioned and the esthetic result highly satisfactory. This case highlights the potential of 3D printed PSIs in craniofacial reconstruction, offering an optimal solution for both functional restoration and esthetic enhancement. HA further ensures the long-term stability and integration of the implant, providing a promising approach for addressing complex craniofacial defects. Full article
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20 pages, 9571 KiB  
Article
Bilateral Condylar Hyperplasia: Importance of Its Diagnosis in the Treatment and Long-Term Stability of Skeletal Class III Correction
by Diego Fernando López, Martín Fernando Orozco, Sofia Ochoa Gómez, Santiago Herrera Guardiola and Luis Eduardo Almeida
Diagnostics 2025, 15(7), 809; https://doi.org/10.3390/diagnostics15070809 - 22 Mar 2025
Viewed by 668
Abstract
Background: Condylar hyperplasia (CH) leads to mandibular overgrowth with anatomical, aesthetic, and functional consequences, particularly affecting facial harmony. It is characterized by severe mandibular prognathism (MP) in bilateral cases. This study aims to propose a therapeutic algorithm for diagnosing and treating bilateral condylar [...] Read more.
Background: Condylar hyperplasia (CH) leads to mandibular overgrowth with anatomical, aesthetic, and functional consequences, particularly affecting facial harmony. It is characterized by severe mandibular prognathism (MP) in bilateral cases. This study aims to propose a therapeutic algorithm for diagnosing and treating bilateral condylar hyperplasia (BCH) based on demographic, clinical, craniofacial growth, and clivus ratio uptake conditions. Methods: Ten patients with severe skeletal Class III by MP, whose alteration was clinically associated with BCH, were consecutively evaluated in a specialized dentofacial deformity center between the period of 2019 and 2024. A detailed protocol was followed to gather clinical history, assess anatomical features, evaluate malocclusion, and identify potential BCH. When suspicion arose, a nuclear medicine test measured condylar scintigraphy uptake. If the result was positive, patients underwent bilateral condylectomy, following one of three treatment protocols. Results: Severe PM, pronounced Class III with excessive negative overjet, elongated condyles of normal anatomy, absence of family history, and accelerated growth since preadolescence and adolescence were common characteristics in these patients. Regarding the treatment protocol chosen according to the characteristics of the patients, five cases followed treatment protocol A: condylectomy and surgical correction of the alteration in two surgical stages. Two cases followed protocol B: bilateral condylectomy and orthognathic surgery in the same surgical time, and three cases followed protocol C: condylectomy and later post-surgical orthopedics and/or orthodontics without a second surgical intervention. Histopathological results confirmed bilateral hyperplastic growth and stability in mandibular size, and occlusion was observed during follow-up. Conclusions: Specialists need to recognize the clinical signs of BCH and use scintigraphy tests to measure condylar metabolic activity when suspected. Early detection of BCH is crucial, as it influences treatment decisions and helps prevent relapses in orthodontic or surgical interventions aimed solely at correcting or compensating for Class III malocclusion caused by MP. Full article
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14 pages, 8769 KiB  
Article
Craniocervical Posture and Cervical Curvature Variations in Adult Females with Different Vertical Facial Patterns: A Cross-Sectional Study
by Jeongeun Chang, Sun-Hyung Park, Jae Hyun Park, Sanghee Lee, Hyung-Seog Yu, Kee-Joon Lee, Chooryung J. Chung and Kyung-Ho Kim
Appl. Sci. 2025, 15(5), 2391; https://doi.org/10.3390/app15052391 - 24 Feb 2025
Viewed by 983
Abstract
This study aimed to determine whether there are relationships between vertical facial patterns, cervical posture, and cervical curvature types. Ninety-two adult females with skeletal Class I relationships were retrospectively analyzed and divided into hypodivergent, normovergent, and hyperdivergent groups based on the mandibular plane [...] Read more.
This study aimed to determine whether there are relationships between vertical facial patterns, cervical posture, and cervical curvature types. Ninety-two adult females with skeletal Class I relationships were retrospectively analyzed and divided into hypodivergent, normovergent, and hyperdivergent groups based on the mandibular plane angle to the nasion–sella line. Variables representing craniocervical posture (sagittal vertical axis, SVA; cervical inclination angle, CIA) and cervical curvature were measured. Differences in craniocervical posture among the groups were assessed. Cervical curvatures were classified into lordotic, straight, kyphotic, or sigmoid categories. The distribution of cervical curvature types among the groups was compared, and correlations between vertical facial patterns, craniocervical postures, and cervical curvature measurements were calculated. The results indicated that the hyperdivergent group exhibited increased SVA and decreased CIA compared to the normovergent and hypodivergent groups. Significant differences in cervical curvature types were observed among the groups. Lordotic curvature was most common in the normovergent group, while straight curvature was predominant in the hypodivergent and hyperdivergent groups. A significant correlation was found between an increased mandibular plane angle and a forward head position (increased SVA and decreased CIA). In conclusion, there are relationships between vertical facial patterns, cervical posture, and cervical curvature types. Therefore, careful assessment of craniocervical posture and cervical curvature is necessary in lateral cephalograms for orthodontic evaluation. However, cervical curvature measurements show minimal correlation with the mandibular plane angle. Full article
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14 pages, 5500 KiB  
Article
Literature Review of Various Treatments in CNPAS and a Proposed Novel Clinical Treatment Algorithm
by Omri Emodi, Nidal Zeineh, Ahmad Hija, Amir Bilder, Chaim Ohayon, Dekel Shilo, Miri Tzemach, Talia Gazit-Rappaport, Arie Gordin, Adi Rachmiel and Tal Capucha
Children 2025, 12(2), 250; https://doi.org/10.3390/children12020250 - 19 Feb 2025
Viewed by 878
Abstract
Background: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare disorder characterized by a narrowed pyriform aperture and nasal obstruction. Children with CNPAS often exhibit a bony ridge on the underside of the secondary palate, a solitary central incisor, and a triangular-shaped palate. [...] Read more.
Background: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare disorder characterized by a narrowed pyriform aperture and nasal obstruction. Children with CNPAS often exhibit a bony ridge on the underside of the secondary palate, a solitary central incisor, and a triangular-shaped palate. Due to its rarity, limited research exists, and there is no established treatment algorithm, which complicates management, particularly in craniofacial treatments and long-term follow-up. Aims: This study aimed to develop a comprehensive treatment algorithm based on long-term follow-up, focusing on maxillofacial deformities, dental considerations, and upper airway assessment. Methods: We conducted a retrospective study of four CNPAS patients treated at our institute. We performed a literature review, and a comparison was executed with our data in order to introduce our novel, age-specific clinical treatment framework. Results: A literature review was conducted, and different clinical parameters were examined. Previously published data were compared to our patients-related findings to develop our clinical treatment algorithm based on patients’ age. Patients were monitored for respiratory distress during the first two years of life. Children with cyclic cyanosis underwent surgical widening of the pyriform aperture through bony excess removal and nasal tubing to ensure airway patency. For those with ongoing desaturation events, neonatal palatal expansion was performed. At ages 10–12, additional evaluations using polysomnography and orthodontic assessments were conducted. Based on these findings, patients received surgically assisted rapid palatal expansion (SARPE) and further surgical widening of the pyriform aperture if obstructive sleep apnea (OSA) was present. Subsequent treatments included orthodontic care and restoration of the missing central incisor. Conclusions: We propose an age-based clinical treatment algorithm for CNPAS tailored to address individual patient needs throughout their growth. Full article
(This article belongs to the Section Pediatric Otolaryngology)
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8 pages, 6939 KiB  
Article
Induction of Mandibular Cortical Bone Defects to Study Bone Regeneration
by Elizabeth K. Vu, Grant Kim, Mitchell J. Shimak, Ismael Y. Karkache, Jinsha Koroth, Emily Chavez, Samuel Mitchell, Rachel B. Clark, Kim C. Mansky and Elizabeth W. Bradley
Endocrines 2025, 6(1), 9; https://doi.org/10.3390/endocrines6010009 - 14 Feb 2025
Viewed by 998
Abstract
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 [...] Read more.
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
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18 pages, 9644 KiB  
Article
ctdsp2 Knockout Induces Zebrafish Craniofacial Dysplasia via p53 Signaling Activation
by Xin Xia, Wenjie Song, Fuyu Zhang, Yue Fan, Bo Zhang and Xiaowei Chen
Int. J. Mol. Sci. 2025, 26(3), 1297; https://doi.org/10.3390/ijms26031297 - 3 Feb 2025
Viewed by 1217
Abstract
Hemifacial microsomia (HFM) is a rare congenital craniofacial deformity that significantly impacts the appearance and hearing. The genetic etiology of HFM remains largely unknown, although genetic factors are considered to be primary contributors. We previously identified CTDSP2 as a potential causative gene in [...] Read more.
Hemifacial microsomia (HFM) is a rare congenital craniofacial deformity that significantly impacts the appearance and hearing. The genetic etiology of HFM remains largely unknown, although genetic factors are considered to be primary contributors. We previously identified CTDSP2 as a potential causative gene in HFM cases. Utilizing CRISPR/Cas9, we knocked out ctdsp2 in zebrafish and analyzed the spatiotemporal expression of ctdsp2 and neural crest cell (NCC) markers through in situ hybridization (ISH). Craniofacial cartilage and chondrocyte phenotypes were visualized using Alcian blue and wheat germ agglutinin (WGA) staining. Cell proliferation and apoptosis were assessed via immunofluorescence with PH3 and TUNEL. RNA sequencing was performed on ctdsp2−/− embryos and control siblings, followed by rescue experiments. Knockout of ctdsp2 in zebrafish resulted in craniofacial defects characteristic of HFM. We observed abnormalities in NCC apoptosis and proliferation in the pharyngeal arches, as well as impaired differentiation of chondrocytes in ctdsp2−/− embryos. RNA-Seq analysis revealed significantly higher expression of genes in the p53 signaling pathway in mutants. Furthermore, ctdsp2 mRNA injection and tp53 knockout significantly rescued pharyngeal arch cartilage dysplasia. Our findings suggest that ctdsp2 knockout induces zebrafish craniofacial dysplasia, primarily by disrupting pharyngeal chondrocyte differentiation and inhibiting NCC proliferation through p53 signaling pathway activation. Full article
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11 pages, 4913 KiB  
Article
Stem Cells Within Three-Dimensional-Printed Scaffolds Facilitate Airway Mucosa and Bone Regeneration and Reconstruction of Maxillary Defects in Rabbits
by Mi Hyun Lim, Jung Ho Jeon, Sun Hwa Park, Byeong Gon Yun, Seok-Won Kim, Dong-Woo Cho, Jeong Hak Lee, Do Hyun Kim and Sung Won Kim
Medicina 2024, 60(12), 2111; https://doi.org/10.3390/medicina60122111 - 23 Dec 2024
Viewed by 1261
Abstract
Background and Objectives: Current craniofacial reconstruction surgical methods have limitations because they involve facial deformation. The craniofacial region includes many areas where the mucosa, exposed to air, is closely adjacent to bone, with the maxilla being a prominent example of this structure. [...] Read more.
Background and Objectives: Current craniofacial reconstruction surgical methods have limitations because they involve facial deformation. The craniofacial region includes many areas where the mucosa, exposed to air, is closely adjacent to bone, with the maxilla being a prominent example of this structure. Therefore, this study explored whether human neural-crest-derived stem cells (hNTSCs) aid bone and airway mucosal regeneration during craniofacial reconstruction using a rabbit model. Materials and Methods: hNTSCs were induced to differentiate into either mucosal epithelial or osteogenic cells in vitro. hNTSCs were seeded into polycaprolactone scaffold (three-dimensionally printed) that were implanted into rabbits with maxillary defects. Four weeks later, tissue regeneration was analyzed via histological evaluation and immunofluorescence staining. Results: In vitro, hNTSCs differentiated into both mucosal epithelial and osteogenic cells. hNTSC differentiation into respiratory epithelial cells was confirmed by Alcian Blue staining, cilia in SEM, and increased expression levels of FOXJ1 and E-cadherin through quantitative RT-PCR. hNTSC differentiation into bone was confirmed by Alizarin Red staining, increased mRNA expression levels of BMP2 (6.1-fold) and RUNX2 (2.3-fold) in the hNTSC group compared to the control. Four weeks post-transplantation, the rabbit maxilla was harvested, and H&E, SEM, and immunohistofluorescence staining were performed. H&E staining and SEM showed that new tissue and cilia around the maxillary defect were more prominent in the hNTSC group. Also, the hNTSCs group showed positive immunohistofluorescence staining for acetylated α-tubulin and cytokerin-5 compared to the control group. Conclusions: hNTSCs combined with PCL scaffold enhanced the regeneration of mucosal tissue and bone in vitro and promoted mucosal tissue regeneration in the in vivo rabbit model. Full article
(This article belongs to the Special Issue New Insights into Plastic and Reconstructive Surgery)
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