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Search Results (185)

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Keywords = dental anomaly

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20 pages, 2316 KiB  
Article
Detection of Dental Anomalies in Digital Panoramic Images Using YOLO: A Next Generation Approach Based on Single Stage Detection Models
by Uğur Şevik and Onur Mutlu
Diagnostics 2025, 15(15), 1961; https://doi.org/10.3390/diagnostics15151961 - 5 Aug 2025
Abstract
Background/Objectives: The diagnosis of pediatric dental conditions from panoramic radiographs is uniquely challenging due to the dynamic nature of the mixed dentition phase, which can lead to subjective and inconsistent interpretations. This study aims to develop and rigorously validate an advanced deep [...] Read more.
Background/Objectives: The diagnosis of pediatric dental conditions from panoramic radiographs is uniquely challenging due to the dynamic nature of the mixed dentition phase, which can lead to subjective and inconsistent interpretations. This study aims to develop and rigorously validate an advanced deep learning model to enhance diagnostic accuracy and efficiency in pediatric dentistry, providing an objective tool to support clinical decision-making. Methods: An initial comparative study of four state-of-the-art YOLO variants (YOLOv8, v9, v10, and v11) was conducted to identify the optimal architecture for detecting four common findings: Dental Caries, Deciduous Tooth, Root Canal Treatment, and Pulpotomy. A stringent two-tiered validation strategy was employed: a primary public dataset (n = 644 images) was used for training and model selection, while a completely independent external dataset (n = 150 images) was used for final testing. All annotations were validated by a dual-expert team comprising a board-certified pediatric dentist and an experienced oral and maxillofacial radiologist. Results: Based on its leading performance on the internal validation set, YOLOv11x was selected as the optimal model, achieving a mean Average Precision (mAP50) of 0.91. When evaluated on the independent external test set, the model demonstrated robust generalization, achieving an overall F1-Score of 0.81 and a mAP50 of 0.82. It yielded clinically valuable recall rates for therapeutic interventions (Root Canal Treatment: 88%; Pulpotomy: 86%) and other conditions (Deciduous Tooth: 84%; Dental Caries: 79%). Conclusions: Validated through a rigorous dual-dataset and dual-expert process, the YOLOv11x model demonstrates its potential as an accurate and reliable tool for automated detection in pediatric panoramic radiographs. This work suggests that such AI-driven systems can serve as valuable assistive tools for clinicians by supporting diagnostic workflows and contributing to the consistent detection of common dental findings in pediatric patients. Full article
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17 pages, 1042 KiB  
Article
Association of VAX1, MAFB, WNT3 with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population
by Tran Phuong Thao, Teruyuki Niimi, Satoshi Suzuki, Toko Hayakawa, Chisato Sakuma, Ken Kitagawa, Hideto Imura, Hisataka Kondo, Nguyen Huu Tu, Tong Minh Son, Vo Truong Nhu Ngoc, Le Kha Anh, Pham Nguyen Gia Loc, Hiroo Furukawa, Nagana Natsume and Nagato Natsume
Genes 2025, 16(8), 862; https://doi.org/10.3390/genes16080862 - 24 Jul 2025
Viewed by 318
Abstract
Background/Objectives: Non-syndromic cleft lip with or without palate (NSCL/P) is a common, multifactorial congenital anomaly. As genetic associations can be population-specific, this study aimed to investigate single-nucleotide polymorphisms (SNPs) in the VAX1, MAFB, and WNT3 genes for association with NSCL/P in [...] Read more.
Background/Objectives: Non-syndromic cleft lip with or without palate (NSCL/P) is a common, multifactorial congenital anomaly. As genetic associations can be population-specific, this study aimed to investigate single-nucleotide polymorphisms (SNPs) in the VAX1, MAFB, and WNT3 genes for association with NSCL/P in a Japanese cohort. Methods: A case–control study was conducted with 310 Japanese patients with NSCL/P and 308 ethnically matched healthy controls from Aichi Gakuin Dental Hospital. We genotyped SNPs rs7078160 (VAX1), rs13041247 (MAFB), and rs3809857 (WNT3) using TaqMan assays. Associations were assessed using chi-squared tests, with results stratified by sex and corrected for multiple comparisons using the Bonferroni method. Results: The VAX1 rs7078160 A allele was significantly associated with an increased risk for NSCL/P (OR = 1.67, p < 0.00001). The association was particularly strong in females (OR = 1.93, p < 0.00001) but not significant in males after correction. The MAFB rs13041247 variant showed a nominal protective association with the NSCLO subtype that was not significant after Bonferroni correction. No significant association was found for WNT3. A notable gene–gene interaction was observed, where carrying risk alleles for both VAX1 and MAFB significantly increased overall NSCL/P risk (OR = 2.65, p = 0.00008). Conclusions: VAX1 rs7078160 is a significant risk factor for NSCL/P in the Japanese population, with a pronounced female-specific effect. A synergistic interaction between VAX1 and MAFB elevates disease risk, whereas WNT3 was not implicated in this cohort. These findings underscore the population-specific genetic architecture of NSCL/P. Full article
(This article belongs to the Section Population and Evolutionary Genetics and Genomics)
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10 pages, 265 KiB  
Article
Children and Adolescents with Mucopolysaccharidosis and Osteogenesis Imperfecta: The Dentistry on the Multiprofessional Team
by Mariana Laís Silva Celestino, Natália Cristina Ruy Carneiro, Heloisa Vieira Prado, Glória Maria Pimenta Cabral, Mauro Henrique Nogueira Guimarães Abreu and Ana Cristina Borges-Oliveira
J. Pers. Med. 2025, 15(7), 323; https://doi.org/10.3390/jpm15070323 - 18 Jul 2025
Viewed by 321
Abstract
Background/Objectives: To identify factors associated with the referral by a multiprofessional team to dental services for children and adolescents with rare genetic diseases. Methods: A cross-sectional study was developed with 87 children/adolescents with mucopolysaccharidosis (n = 26) and osteogenesis imperfecta (n [...] Read more.
Background/Objectives: To identify factors associated with the referral by a multiprofessional team to dental services for children and adolescents with rare genetic diseases. Methods: A cross-sectional study was developed with 87 children/adolescents with mucopolysaccharidosis (n = 26) and osteogenesis imperfecta (n = 61) and their caregivers. Recruitment took place at reference centers for rare genetic conditions in five Brazilian states. The caregivers answered a questionnaire on the children. They were examined for malocclusion, dental anomalies, caries experience, and gingivitis. Bivariate and multivariate analyses of the data were performed, considering a 95% confidence level. Results: The average age of children/adolescents was 10.4 years (±5.6) and 17.3% had never gone to a dentist. Among those with past dental experience, the reason for most appointments was oral prophylaxis/preventive maintenance (62.1%). With regard to referrals to a dentist by the multidisciplinary team, 29.9% had never received a referral. The likelihood of having been referred to a dentist by the multiprofessional team was 2.67 times greater for female patients (95% CI: 0.96–7.42) and 7.74 times greater for children/adolescents with a history of toothache (95% CI: 1.61–37.14). Conclusions: Female children/adolescents with mucopolysaccharidosis and osteogenesis imperfecta and those with a history of dental pain were more likely to have been advised by the multiprofessional team to seek dental treatment. Full article
(This article belongs to the Special Issue Advances in Oral Health: Innovative and Personalized Approaches)
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14 pages, 8916 KiB  
Review
Dens Invaginatus: A Comprehensive Review of Classification and Clinical Approaches
by Abayomi O. Baruwa, Craig Anderson, Adam Monroe, Flávia Cracel Nogueira, Luís Corte-Real and Jorge N. R. Martins
Medicina 2025, 61(7), 1281; https://doi.org/10.3390/medicina61071281 - 16 Jul 2025
Viewed by 425
Abstract
Dens invaginatus is a developmental dental anomaly characterized by the infolding of the enamel organ into the dental papilla during early odontogenesis. This process leads to a broad spectrum of anatomical variations, ranging from minor enamel-lined pits confined to the crown to deep [...] Read more.
Dens invaginatus is a developmental dental anomaly characterized by the infolding of the enamel organ into the dental papilla during early odontogenesis. This process leads to a broad spectrum of anatomical variations, ranging from minor enamel-lined pits confined to the crown to deep invaginations extending through the root, occasionally communicating with periodontal or periapical tissues. The internal complexity of affected teeth presents diagnostic and therapeutic challenges, particularly in severe forms that mimic root canal systems or are associated with pulpal or periapical pathology. Maxillary lateral incisors are most frequently affected, likely due to their unique developmental timeline and morphological susceptibility. Although various classification systems have been proposed, Oehlers’ classification remains the most clinically relevant due to its simplicity and correlation with treatment complexity. Recent advances in diagnostic imaging, especially cone beam computed tomography (CBCT), have revolutionized the identification and classification of these anomalies. CBCT-based adaptations of Oehlers’ classification allow for the precise assessment of invagination extent and pulpal involvement, facilitating improved treatment planning. Contemporary therapeutic strategies now include calcium-silicate-based cement sealing materials, endodontic microsurgery for inaccessible anatomy, and regenerative endodontic procedures for immature teeth with necrotic pulps. Emerging developments in artificial intelligence, genetic research, and tissue engineering promise to further refine diagnostic capabilities and treatment options. Early detection remains critical to prevent complications such as pulpal necrosis or apical disease. A multidisciplinary, image-guided, and patient-centered approach is essential for optimizing clinical outcomes in cases of dens invaginatus. Full article
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9 pages, 3737 KiB  
Article
The Prevalence of Supernumerary Teeth in a Sample of Non-Syndromic Young Patients from Greece
by Nefeli Katanaki, Miltiadis A. Makrygiannakis and Eleftherios G. Kaklamanos
Dent. J. 2025, 13(7), 317; https://doi.org/10.3390/dj13070317 - 14 Jul 2025
Viewed by 469
Abstract
Background/Objectives: Supernumerary teeth, or hyperdontia, refer to a developmental anomaly defined by the presence of additional teeth beyond the normal dentition. Hyperdontia may result in clinical complications including delayed eruption, crowding, and malocclusion. Despite its prevalence having been studied in various populations, [...] Read more.
Background/Objectives: Supernumerary teeth, or hyperdontia, refer to a developmental anomaly defined by the presence of additional teeth beyond the normal dentition. Hyperdontia may result in clinical complications including delayed eruption, crowding, and malocclusion. Despite its prevalence having been studied in various populations, data from geographically isolated or peripheral groups remain limited. This study aimed to investigate the prevalence and distribution of supernumerary teeth in a sample of children and adolescents from the island of Lesvos, Greece. Methods: A retrospective cross-sectional study was conducted using panoramic radiographs from 621 Caucasian children aged 9–16 years who attended orthodontic or general/pediatric dental clinics in Mytilini, Lesvos island, Greece. Radiographs were examined for the presence, number, type, and location of supernumerary teeth. The analysis included data to explore gender and arch distribution. Results: Supernumerary teeth were identified in 15 individuals, corresponding to a prevalence of 2.4%. A slightly higher occurrence was observed in males (1.4%) than in females (1%). The majority of supernumerary teeth were situated in the maxillary arch (1.9%). Mesiodens represented the most frequently observed type, followed by supernumerary lateral incisors, paramolars, and a single supernumerary central incisor. Conclusions: The prevalence of supernumerary teeth in this population is consistent with reported findings. Mesiodens was the most frequently observed type, with a predominance in the maxillary arch. Early detection of supernumerary teeth is crucial for accurate diagnosis and effective management. Full article
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10 pages, 5450 KiB  
Case Report
Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia
by Abdulfatah Alazmah
Healthcare 2025, 13(13), 1543; https://doi.org/10.3390/healthcare13131543 - 28 Jun 2025
Viewed by 363
Abstract
Background/Objectives: Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder affecting ectoderm-derived tissues including teeth, hair, and sweat glands. The dental abnormalities associated with HED, such as oligodontia and conical teeth, often result in significant functional, esthetic, and psychosocial challenges, particularly during [...] Read more.
Background/Objectives: Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder affecting ectoderm-derived tissues including teeth, hair, and sweat glands. The dental abnormalities associated with HED, such as oligodontia and conical teeth, often result in significant functional, esthetic, and psychosocial challenges, particularly during childhood. Methods: A 10-year-old child presented with psychosocial concerns related to missing and malformed teeth. Clinical examination revealed oligodontia, conical anterior teeth, and a resorbed mandibular ridge. Based on clinical findings and a positive family history, a diagnosis of HED with significant dental involvement was confirmed. Results: A conservative prosthodontic approach was selected. A maxillary overdenture was fabricated over the retained primary teeth to enhance retention and preserve the alveolar bone, and a resin-bonded bridge was placed in the mandible due to poor ridge anatomy. The treatment restored oral function and esthetics and improved the child’s self-esteem. A recall visit after three months confirmed good prosthesis adaptation and a positive response from the patient and parents. Conclusions: This case highlights the importance of early, conservative, and developmentally appropriate prosthetic rehabilitation in pediatric patients with HED. Interim prostheses can significantly improve oral function, appearance, and psychosocial well-being while preserving future treatment options as the child matures. Full article
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24 pages, 7732 KiB  
Review
The Morphogenesis, Pathogenesis, and Molecular Regulation of Human Tooth Development—A Histological Review
by Dorin Novacescu, Cristina Stefania Dumitru, Flavia Zara, Marius Raica, Cristian Silviu Suciu, Alina Cristina Barb, Marina Rakitovan, Antonia Armega Anghelescu, Alexandu Cristian Cindrea, Szekely Diana and Pusa Nela Gaje
Int. J. Mol. Sci. 2025, 26(13), 6209; https://doi.org/10.3390/ijms26136209 - 27 Jun 2025
Viewed by 561
Abstract
Odontogenesis, the development of teeth, is a complex, multistage process that unfolds from early embryogenesis through tooth eruption and maturation. It serves as a classical model of organogenesis due to the intricate reciprocal interactions between cranial neural crest-derived mesenchyme and oral epithelium. This [...] Read more.
Odontogenesis, the development of teeth, is a complex, multistage process that unfolds from early embryogenesis through tooth eruption and maturation. It serves as a classical model of organogenesis due to the intricate reciprocal interactions between cranial neural crest-derived mesenchyme and oral epithelium. This narrative review synthesizes current scientific knowledge on human tooth development, tracing the journey from the embryological origins in the first branchial arch to the formation of a fully functional tooth and its supporting structures. Key morphogenetic stages—bud, cap, bell, apposition, and root formation—are described in detail, highlighting the cellular events and histological features characterizing each stage. We discuss the molecular and cellular regulatory networks that orchestrate odontogenesis, including the conserved signaling pathways (Wnt, BMP, FGF, SHH, EDA) and transcription factors (e.g., PAX9, MSX1/2, PITX2) that drive tissue patterning and cell differentiation. The coordinated development of supporting periodontal tissues (cementum, periodontal ligament, alveolar bone, gingiva) is also examined as an integral part of tooth organogenesis. Finally, developmental anomalies (such as variations in tooth number, size, and form) and the fate of residual embryonic epithelial cells are reviewed to underscore the clinical significance of developmental processes. Understanding the normal course of odontogenesis provides crucial insight into congenital dental disorders and lays a foundation for advances in regenerative dental medicine. 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 466
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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11 pages, 2481 KiB  
Case Report
Fusion, Gemination or a Morphological Variation? A Case Report on a Diagnostically Challenging Mandibular Molar
by Argyro Kavadella, Ioannis Papavasileiou, Maria-Areti Salamouri, Ioannis Papavasileiou and Elpida-Niki Emmanouil-Nikoloussi
Oral 2025, 5(2), 38; https://doi.org/10.3390/oral5020038 - 1 Jun 2025
Viewed by 1704
Abstract
Background/Objectives: Dental anomalies can manifest as a consequence of developmental defects and/or genetic influences, which disrupt the normal functioning of the oral cavity and present in various forms. Cases of fusion, gemination and concrescence are rare dental anomalies which are seen in [...] Read more.
Background/Objectives: Dental anomalies can manifest as a consequence of developmental defects and/or genetic influences, which disrupt the normal functioning of the oral cavity and present in various forms. Cases of fusion, gemination and concrescence are rare dental anomalies which are seen in the area of the mandibular molars. Case report: This case report concerns a 69-year-old Greek male patient who presented in the dental office asking for comprehensive oral treatment. During the clinical examination, a morphologically atypical molar was identified in the area of #37–38 presented with a large crown in the mesio-distal dimension (‘double’ crown). Panoramic and periapical radiographs offered valuable insights on the morphology of the irregular tooth, as they revealed the crown and root morphology, including the two pulp chambers and the three parallel roots of the tooth. Discussion: A plausible hypothesis identifies the atypical tooth as a third molar exhibiting morphological variation, a common characteristic of third molars. Additional diagnostic considerations—while supposing the existence of a supernumerary fourth molar—include the developmental anomalies of gemination, concrescence and fusion, as the clinical and radiographic features of the tooth display elements associated with all three. Conclusions: Considering the patient’s history, clinical and radiographic findings and the relevant literature, fusion is determined to be the most probable diagnosis. Early identification of the atypical tooth is essential to facilitate the implementation of appropriate preventive measures and to support informed treatment planning, should invasive procedures such as endodontic or surgical intervention be required in the future. Full article
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16 pages, 1176 KiB  
Review
Orthodontics in Pediatric Osteoporosis: A Narrative Literature Review
by Anastasia Panagiota Gravia, Heleni Vastardis, Apostolos I. Tsolakis and Artemis Doulgeraki
Children 2025, 12(6), 691; https://doi.org/10.3390/children12060691 - 28 May 2025
Viewed by 591
Abstract
Osteoporosis is the most common metabolic bone disorder, characterized by reduced bone mass and abnormal bone microarchitecture, resulting in increased bone fragility and a heightened risk of low-energy fractures. Pediatric osteoporosis may be either primary, due to genetic factors, or secondary, arising from [...] Read more.
Osteoporosis is the most common metabolic bone disorder, characterized by reduced bone mass and abnormal bone microarchitecture, resulting in increased bone fragility and a heightened risk of low-energy fractures. Pediatric osteoporosis may be either primary, due to genetic factors, or secondary, arising from chronic diseases and/or their treatment. Oral health and proper occlusion are integral components of overall health, influencing functionality, nutrition, facial aesthetics, and psychosocial development during childhood. Severe malocclusion can adversely affect speech, mastication, appearance, psychological well-being, and social interactions. The aim of this narrative review is to examine the existing literature on orthodontic anomalies and management strategies in pediatric patients with osteoporosis while highlighting clinical challenges, treatment limitations, and areas necessitating further research. A comprehensive literature search was conducted in the PubMed database, focusing on studies involving human subjects aged 3 to 18 years, published in English between 2002 and 2024. The findings indicate that children with osteoporosis present with more severe dental and occlusal complications compared to their healthy peers, often facing increased orthodontic complexity due to skeletal fragility and systemic comorbidities. These challenges necessitate careful, individualized treatment planning and close multidisciplinary collaboration. Although research in this field remains limited due to the rarity of pediatric osteoporosis, recognizing and addressing the specific needs of this population is critical to improving clinical outcomes and guiding future therapeutic approaches. Full article
(This article belongs to the Special Issue Prevention and Orthodontic Treatment of Malocclusion in Children)
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11 pages, 347 KiB  
Article
Prevalence of Palatally Displaced Canines and Their Association with Dental and Skeletal Anomalies: A Retrospective Study
by Alicia Martínez-González, María Elena Montes-Díaz, Nuria Esther Gallardo-López, Pedro Colino-Gallardo, Laura Criado-Pérez and Alfonso Alvarado-Lorenzo
Appl. Sci. 2025, 15(11), 5862; https://doi.org/10.3390/app15115862 - 23 May 2025
Viewed by 322
Abstract
Maxillary canines have a vital importance in the dental arches, both esthetically and functionally. They are the second most frequently impacted teeth, with palatal impaction being the most common. The purpose of the study was to evaluate the prevalence of palatally displaced canines [...] Read more.
Maxillary canines have a vital importance in the dental arches, both esthetically and functionally. They are the second most frequently impacted teeth, with palatal impaction being the most common. The purpose of the study was to evaluate the prevalence of palatally displaced canines (PDC) and their association with dental and skeletal anomalies. A retrospective analysis was conducted on 68 patients. A panoramic and a lateral cephalometric radiograph were performed to determine impaction type and patients’ dental and skeletal characteristics. The analysis grouped all PDC cases together and then subdivided them by location (right, left, or bilateral impaction). The most frequent PDC was right-side impaction. When all cases were grouped together, patients showed no family history of PDC (p < 0.05) or presence of dental anomalies (p < 0.05). No relation to skeletal class was observed, but a normodivergent growth pattern did show an association (p < 0.05). When different PDC types were analyzed separately, we observed a relationship with dental midline deviation (F = 17.04, p < 0.05), family history of PDC (F = 12.56, p < 0.05), and lateral incisors anomalies (F = 9.58, p < 0.05). Therefore, an association was found between PDC and dental anomalies when the types of impaction were analyzed separately and with the growth pattern when PDC cases were grouped together. Full article
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11 pages, 1842 KiB  
Case Report
Extremely Extensive Vascular Malformation Requires Special Preparation for Simple Dental Surgical Procedures—Case Report
by Natalia Muczkowska, Klaudia Masłowska and Agnieszka Adamska
Dent. J. 2025, 13(5), 217; https://doi.org/10.3390/dj13050217 - 19 May 2025
Viewed by 562
Abstract
Background/Objectives: Vascular anomalies represent a complex group of conditions including vascular malformations and haemangiomas. Haemangiomas are benign tumours that have an endothelial origin. In contrast, vascular malformations are characterized by the abnormal dilation of vessels without proliferation. Depending on the extension of the [...] Read more.
Background/Objectives: Vascular anomalies represent a complex group of conditions including vascular malformations and haemangiomas. Haemangiomas are benign tumours that have an endothelial origin. In contrast, vascular malformations are characterized by the abnormal dilation of vessels without proliferation. Depending on the extension of the disease, there is a higher risk of life-threatening haemorrhages that may occur during simple dental procedures. The aim of this case report is to present the interdisciplinary treatment for patients with venous malformation and to discuss the possible dental management of these patients. Methods: A 66-year-old male patient with an extensive venous malformation of the head and neck was referred for a tooth extraction. The venous malformation involved lips, buccal mucosa, tongue, and floor of the oral cavity. Its proximity to the tooth requiring extraction was associated with a high risk of severe bleeding. Results: Prior to the treatment, CBCT and CT scans were performed to confirm the extensions of the lesion and visualise its margins. Considering the possible risks related with venous malformation, the procedure consisted of tooth removal in a hospital setting with control over severe bleeding complications. Conclusions: The presence of an extensive vascular malformation in the head and neck region is burdened with a higher risk of haemorrhages during simple dental procedures. The radiological and clinical planning enables the choice of an accurate treatment strategy to avoid possible difficulties. In cases where such complications cannot be avoided, it is important to perform the treatment in a hospital setting with the cooperation of maxillofacial surgeons. Full article
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10 pages, 8316 KiB  
Case Report
Long-Term Outcomes of Maxillary Alveolar Process Trauma and Primary Incisor Injury in Early Childhood: A Case Report
by Sanja Vujkov, Stojan Ivic, Bojan Petrovic, Duska Blagojevic, Isidora Neskovic, Ana Tadic and Jelena Komsic
J. Clin. Med. 2025, 14(10), 3275; https://doi.org/10.3390/jcm14103275 - 8 May 2025
Viewed by 908
Abstract
Background: Traumatic injuries to the alveolar process and primary teeth in early childhood can have long-term consequences on the development of permanent dentition and eruption pathways. Objective: This case report aims to illustrate the impact of early orofacial trauma on the [...] Read more.
Background: Traumatic injuries to the alveolar process and primary teeth in early childhood can have long-term consequences on the development of permanent dentition and eruption pathways. Objective: This case report aims to illustrate the impact of early orofacial trauma on the eruption and development of permanent maxillary incisors and to emphasize the importance of timely interdisciplinary management. Case Presentation: An 8-year-old female patient presented to a pediatric dentistry clinic with delayed eruption of the maxillary anterior permanent teeth. In contrast, her monozygotic twin sister exhibited complete eruption of all permanent anterior teeth, raising parental concern regarding a possible pathological delay. Her medical history revealed orofacial trauma at the age of two, resulting in an alveolar process fracture, avulsion of the primary maxillary left central incisor (tooth 61), and luxation of the primary maxillary right central incisor (tooth 51). A clinical examination demonstrated sufficient arch space without signs of eruption and enamel defects on tooth 52. Radiographic evaluations, including panoramic imaging and cone beam computed tomography (CBCT), confirmed the presence of impacted permanent teeth with structural anomalies suggestive of trauma-related developmental disturbances. Results: The patient underwent a multidisciplinary treatment over a three-year period involving pediatric dentistry, oral surgery, and orthodontics. Management included surgical exposure of the impacted teeth followed by orthodontic traction to guide the eruption and treatment of enamel hypoplasia. Conclusions: This case highlights the long-term consequences of early traumatic dental injuries on permanent dentition development. It underscores the necessity of early diagnosis and a coordinated interdisciplinary approach to optimize outcomes and enhance the long-term oral health and quality of life of affected individuals. Full article
(This article belongs to the Special Issue Current Advances in Endodontics and Dental Traumatology)
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7 pages, 860 KiB  
Case Report
Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study
by Roberto Sirica, Alessandro Ottaiano, Daniele De Brasi, Simone Marcella, Fabio Acquaviva, Monica Ianniello, Nadia Petrillo, Valentina De Angelis, Raffaella Ruggiero, Rossana D’Angelo, Eloisa Evangelista, Antonio Fico and Giovanni Savarese
Genes 2025, 16(5), 519; https://doi.org/10.3390/genes16050519 - 29 Apr 2025
Viewed by 604
Abstract
Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 [...] Read more.
Background: Ectodermal dysplasia (ED) encompasses a heterogeneous group of genetic disorders affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands. Among these, variants in TSPEAR (Thrombospondin-type laminin G domain and epilepsy-associated repeats) have been implicated in autosomal recessive ED type 14 (OMIM 618180), predominantly manifesting with dental anomalies and hair dysplasia. However, the mutational spectrum of TSPEAR remains incompletely characterized. Methods: Two female siblings (ID#1 and ID#4) were clinically evaluated for ED. Genetic analysis, including next-generation sequencing (NGS) and Sanger validation, was conducted to identify TSPEAR variants. A segregation study confirmed inheritance patterns within the family. Results: Both affected siblings exhibited hallmark features of TSPEAR-related ED14, including oligodontia with dysmorphic, pointed maxillary central incisors. Hair thinning and cutaneous angiomas were predominant in ID#4. Genetic analysis identified two compound heterozygous variants in TSPEAR: c.543-1G>A, a splice-site variant likely to disrupt mRNA processing, and NM_144991.2:c.1251G>C(p.Gln417His), a missense variant with predicted deleterious effects. Segregation analysis confirmed maternal and paternal inheritance of the respective variants. A third sibling, ID#5, was identified as a heterozygous carrier without clinical manifestations. Conclusions: This study contributes to the expanding understanding of TSPEAR-related ED14 by providing novel genotype–phenotype correlations. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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13 pages, 241 KiB  
Article
The Prevalence of Oral Anomalies Among Healthy Newborns at a Gynecological Obstetric Hospital in Quito, Ecuador: An Observational, Cross-Sectional Study
by Eleonor Vélez-León, Emilia Guerrero, Mauricio Orlando Carrillo, Marina Cabrera, Gustavo Tello and Patricia Pinos
Dent. J. 2025, 13(4), 158; https://doi.org/10.3390/dj13040158 - 2 Apr 2025
Viewed by 1028
Abstract
Objectives: Early observations often fail to detect anomalies that may impact the health and quality of life of newborns. This study aimed to determine the prevalence of oral anomalies in newborns and explore their possible associations with sociodemographic factors. Methods: A cross-sectional study [...] Read more.
Objectives: Early observations often fail to detect anomalies that may impact the health and quality of life of newborns. This study aimed to determine the prevalence of oral anomalies in newborns and explore their possible associations with sociodemographic factors. Methods: A cross-sectional study was conducted in Quito, Ecuador, analyzing a sample of 241 newborns. The presence of oral anomalies was recorded, and their association with sex, birth weight, maternal age, and gestational factors was evaluated. Results: The prevalence of oral anomalies was 72.3%, with Epstein’s pearls being the most common (50%). Other findings included Bohn’s nodules and dental lamina cysts, while no cases of natal teeth or congenital epulis were observed. Ankyloglossia was identified in 1.36% of newborns. No significant correlations were found between the presence of oral anomalies and sex, birth weight, maternal age, or gestational factors. Conclusions: The high prevalence (72.3%) of oral anomalies in the studied newborns underscores the importance of early detection and management. Epstein’s pearls were the most frequent anomaly, followed by Bohn’s nodules, dental lamina cysts, and ankyloglossia, while no cases of natal teeth or congenital epulis were identified. No statistically significant associations were found with sex, birth weight, maternal age, or pregnancy complications. These findings emphasize the need for early pediatric dental assessment and an interdisciplinary approach to ensure proper neonatal oral health. Further research is recommended to explore potential causes and interventions to optimize oral health from birth. Full article
(This article belongs to the Special Issue Preventive Dentistry and Dental Public Health)
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