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Purpose: Dens evaginatus (DE) is characterised by the presence of a tubercle projection, which when fractured may lead to pulpal pathology. The aim of this study was to assess prevalence of DE in the local population and the long-term outcomes of asymptomatic DE premolars managed with tubercle grinding and composite overlay., Methods: This is a retrospective cohort study of 9-year-old Singaporean children. The primary outcome was the success of prophylactic management of asymptomatic DE premolars with a single session of tubercle grinding and composite overlay, as determined by the absence of clinical signs or symptoms. The factors associated with survival of DE premolars treated were evaluated using Cox proportional hazard regression., Results: The prevalence of DE among Singaporean children was 7.1% (12,677/178,801). DE premolars were more prevalent among females (56.1%) and those of Chinese ethnicity (87.1%). At the tooth level, 26,875 asymptomatic DE premolars were prophylactically managed with tubercle grinding and composite overlay and 2471 DE premolars did not receive any intervention. The mean review period was 46.2 ± 20.2 months. The success rate for DE premolars that received the intervention was significantly higher (p  < 0.001) at 98.9% versus 94.1% in untreated DE premolars. Cox proportional hazard regression revealed that mandibular second premolars (p  < 0.001), DE premolars with fractured tubercles at the time of diagnosis (p  < 0.001) and children of Chinese ethnicity (p  = 0.002) were significantly associated with a higher risk of failures., Conclusion: The prophylactic management of asymptomatic DE premolars with a single-session tubercle grinding and composite overlay is a successful treatment option., (© 2024. The Author(s), under exclusive licence to European Academy of Paediatric Dentistry.)

Background and Aim: Mucopolysaccharidosis (MPS) type IV, referred to as Morquio A syndrome (MAS), is a rare genetic disorder characterized by an insufficient level in the storage of glycosaminoglycans within lysosomes. Diagnosis generally depends on clinical examination, skeletal radiographs, and histochemical tests. The condition is characterized by prominent skeletal deformities, limited joint mobility, significant growth impairment, abnormalities in tooth alignment, and defects in tooth enamel. The present clinical case report aims to provide details of a MAS case with peculiar dental findings, including multiple taurodonts where emergency dental treatment was rendered., Case Representation: A 16-year-old girl with short stature and prominent facial characteristics reported severe pain in the right maxillary back region. Clinical examination revealed multiple areas of alveolar bone loss, decayed #36, and temporary restoration on #16. Radiographic examination indicated multiple posterior teeth with taurodontism. Past medical history was confirmative of Morquio syndrome. Treating taurodonts endodontically is challenging due to the enlarged pulp chamber, shortened roots, and constricted root canal anatomy. Motorized canal preparation and the use of bioceramic sealer with single cone obturation were done to achieve the best results., Conclusion: The present case report encountered difficulty locating and negotiating the root canals and establishing the glide path. Using a dental operating microscope and stiff hand files for glide path and short-length Niti rotary files helped achieve the desired results. Although MPS IV is not frequently seen in dental practice, persons with this syndrome can continue to have good oral and overall health if their dental and medical condition if appropriately managed., (© 2024 Special Care Dentistry Association and Wiley Periodicals LLC.)

Background/purpose: Tooth development, or odontogenesis, is a complex process in which several molecular pathways play a key role. Recently, microRNAs, a class of approximately 20-nucleotide small RNA molecules that regulate gene expression, have been implicated in the odontogenesis process. This study aimed to assess the role of miRNAs in odontogenesis anomalies, specifically agenesis and impaction., Materials and Methods: We analyzed a manually curated list of 82 miRNAs associated with human odontogenesis, sourced from literature data. Employing two different approaches to validate findings, we conducted functional enrichment analysis to evaluate the cell pathways, diseases, and phenotypes enriched for those miRNAs., Results: Our findings indicate that the analyzed miRNAs regulate pathways linked to tooth anomalies, including the TGFꞵ and Wnt signaling pathways, and those governing the pluripotency of stem cells, known to mediate various cellular processes, and interconnected with odontogenesis-related pathways. Furthermore, the analysis disclosed several pathways associated with tumors, including small cell lung and gastric cancer. These results were confirmed also by diseases and phenotypes enrichment evaluation. Moreover, cell network analysis disclosed that miRNAs are embedded and interconnected in networks associated with dental diseases and cancer development, thus confirming the functional enrichment analyses., Conclusion: In summary, our results offer a quantitative measure of the potential involvement of miRNAs in regulating pathways crucial for developmental processes, notably odontogenesis, and provide results suggesting potential association with oncogenesis processes as well., (© 2024 Association for Dental Sciences of the Republic of China. Publishing services by Elsevier B.V.)

Competing Interests: The authors have no conflict of interest relevant to this article.

The objective of this article is to report the clinical case and 4-year follow-up of a 5-year-old child with multiple dental anomalies, emphasizing the importance of early diagnosis and use of combined pediatric surgery and orthodontic approaches. A 5-year-old boy, accompanied by his mother, sought dental care for dental caries and tooth pain. Clinical and radiographic examinations revealed active caries, a supernumerary primary tooth in the region of the mandibular right second premolar, and severe ankylosis of the primary mandibular right second molar. The treatment plan involved extraction of the supernumerary tooth as well as sectioning and extraction of the ankylosed molar. When the patient was 6 years old, the permanent mandibular right first molar showed signs of an altered eruptive process, and orthodontic treatment was initiated. A unilateral band-and-loop space maintainer with coil springs designed to move the permanent first molar was placed on the primary first molar. A new panoramic radiograph, obtained when the patient was aged 7 years, suggested the presence of an odontoma in the apical region of the primary maxillary right canine. Surgical removal and histopathologic examination of the lesion confirmed that it was a developing odontoma. After surgery, due to occlusal anomalies that included transverse maxillary deficiency, deep overbite, and midline deviation, the patient underwent rapid maxillary expansion therapy with a Haas-type appliance. When the patient was 8 years old, orthodontic treatment continued with a removable palatal Hawley expander and a orthodontic mandibular lingual arch. Currently, at the age of 9 years, the child is still undergoing fixed orthodontic treatment after surgical exposure of the impacted permanent maxillary right canine and bonding of an orthodontic attachment to enable traction. A multidisciplinary approach to the management of dental anomalies promotes a favorable prognosis and ensures comprehensive treatment of young patients., Competing Interests: No conflicts of interest reported.

Introduction: The management of eruption disturbances in orthodontics may be challenging and requires a careful diagnosis and treatment planning. This case report discusses the challenges of a two-phase orthodontic treatment of a patient presenting with a dental eruption pattern anomaly., Patient Concerns: A 10-year-old boy presented with no complaints for a routine orthodontic evaluation during the mixed dentition., Primary Diagnoses: The patient was diagnosed with a skeletal Class I malocclusion with unilateral posterior crossbite, incomplete mandibular lateral incisor-canine transposition and a unilateral maxillary ectopic canine., Interventions: Phase 1 started with rapid maxillary expansion to correct the maxillary constriction and the ectopic eruption of the right maxillary canine. In the mandibular arch, phase 1 included the extraction of the left primary lateral incisor and canine, alignment of the left permanent lateral incisor and orthodontic traction of the left permanent canine. The duration of phase 1 was 14 months. Phase 2 involved a comprehensive course of orthodontic treatment and started when the patient was aged 13 years. This phase lasted 18 months., Results: An adequate dental occlusion was obtained, and the treatment results were stable after an 18-month follow-up., Conclusion: In this case, the early diagnosis of the dental anomalies was valuable as it allowed an early intervention to be undertaken, which resulted in overall treatment simplification and potentially minimised the adverse effects. This case report reinforces the importance of a careful follow-up during mixed dentition., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: To describe long-term outcomes and complications following mandibular distraction osteogenesis (MDO) in a diverse patient cohort., Design: Cross-sectional study., Setting: Single tertiary-care pediatric center., Patients: Forty-eight patients previously undergoing MDO with minimum 4-year follow-up., Main Outcome Measures: Respiratory outcomes, feeding patterns, dental development, motor/sensory nerve function, temporo-mandibular joint function, and postsurgical scarring., Results: Forty-six patients with a median age of 7 years were evaluated. Of 20 nonsyndromic patients, none required additional airway procedures, none required continuous positive airway pressure (CPAP) during sleep, and 19 (95%) fed exclusively by mouth. Among 26 syndromic patients, 7 (27%) required CPAP and 8 (31%) were tube fed. Permanent first molar differences were seen in the majority of subjects; patterns of damage interfering with function were more common in syndromic (13/28, 46%) compared to nonsyndromic (5/24, 21%; P  = .014) subjects. MDO prior to age two was associated with more frequent and worse dental damage ( P  = .001). Inferior alveolar nerve and marginal mandibular nerve function were fully intact in 37 (80%) and 39 (85%) of patients, respectively. Three patients (6%), all with associated genetic syndromes, demonstrated severe nerve impairment. By the Vancouver scar scale, ≥ 80% of surgical scars were rated in the most favorable category for each quality assessed. Temporomandibular joint dysfunction was rare., Conclusions: MDO shows highly favorable long-term respiratory, feeding, nerve, and scar outcomes in nonsyndromic patients, although permanent molar changes not precluding tooth viability are commonly seen. Patients with associated syndromes demonstrate respiratory and feeding benefits, but higher rates of dental and nerve abnormalities., Competing Interests: Declaration of Conflicting InterestsJWS has received an educational grant and developed educational content for KLS Martin and Depuy Synthes, both of which produce mandibular distraction devices. JAT is co-founder of Ostiio, LLC.

Purpose: The aim of the present was to assess the association between MIH and tooth agenesis (TA) in orthodontic patients from the Federal University of Rio Grande do Norte, Natal, Brazil., Methods: A cross-sectional study was performed to evaluate the presence of MIH and TA in a sample of 371 pretreatment orthodontic records from patients aged 9-18 years. Statistical analyses were performed using the Chi-square and Fisher's exact tests, and logistic regressions., Results: There was a statistically significant association between the prevalence of tooth agenesis and MIH. A higher percentage of third molar agenesis, maxillary premolar agenesis, and mandibular second premolar agenesis was observed among children with MIH-affected teeth. Patients with MIH had a 2.43 times greater chance of third molar agenesis, and a 5.88 times higher likelihood of mandibular premolar agenesis., Conclusion: There is a weak association between MIH and TA. Furthermore, the presence of hypomineralised molars increases the risk of tooth agenesis., Competing Interests: Declarations Conflict of interest The authors have no relevant financial or non-financial interests to disclose. Ethics approval and consent to participate This research was approved Research Ethics Committee of the State University of Rio Grande do Norte (nº 6.457.506)., (© 2024. The Author(s), under exclusive licence to European Academy of Paediatric Dentistry.)

Background: To investigate how successfully the classification of patients with and without dental anomalies was achieved through four experiments involving different dental anomalies., Methods: Lateral cephalometric radiographs (LCRs) from 526 individuals aged between 14 and 22 years were included. Four experiments involving different dental anomalies were created. Experiment 1 included the total dental anomaly group and control group (CG). Experiment 2 only had dental agenesis and a CG. Experiment 3 consisted of only palatally impacted canines and the CG. Experiment 4 comprised patients with various dental defects (transposition, hypodontia, agenesis-palatally affected canine, peg-shaped laterally, hyperdontia) and the CG. Twelve sella measurements and assessments of the ponticulus posticus and posterior arch deficiency were given as input. The target was to distinguish between anomalies and controls. The CatBoost algorithm was applied to classify patients with and without dental anomalies., Results: In order from lowest to highest, the predictive accuracies of the experiments were as follows: experiment 4 < experiment 2 < experiment 3 < experiment 1. The sella area (SA) (mm2) was the most important variable in experiment 1. The most significant variable in prediction model of experiment 2 was sella height posterior (SHP) (mm). Sella area (SA) (mm2) was again the most relevant variable in experiment 3. The most important variable in experiment 4 was sella height median (SHM) (mm)., Conclusions: Every prediction model from the four experiments prioritized different variables. These findings may suggest that related research should focus on specific traits from a diagnostic perspective., (© 2024. The Author(s).)

KBG syndrome is a rare genetic disorder caused by heterozygous pathogenic variants in ANKRD11. Affected individuals have developmental delay, short stature, characteristic facial features, and other dysmorphic findings. To date, a spectrum of unspecific neuroradiological defects has been reported in KBG patients, such as cortical defects, white matter abnormalities, corpus callosum, and cerebellar vermis hypoplasia.Deep clinical and neuroradiological phenotyping and genotype of a patient presenting with mild cognitive and behavioral problems were obtained after written informed consent.We herein describe the first KBG patient presenting with cerebellar heterotopia, a heterogeneous malformation characterized by the presence of clusters of neurons within the white matter of cerebellar hemispheres.This novel association broadens the neuroradiological spectrum of KBG syndrome, and further prompts to investigate the potential functions of ANKRD11 in cerebellar development., (© 2024. The Author(s).)

Objective: To investigate the incidence of accessory canals and the variation in root canal morphology of permanent mandibular incisors and canines in Pakistani population using Cone Beam Computed Tomography (CBCT)., Methods: A cross-sectional study was conducted in University College of Dentistry, The University of Lahore, Pakistan after getting institutional ethical permission from January 2020 to September 2022. The data included records of 111 patients consisting of 444 permanent mandibular incisors and 222 permanent mandibular canines. Accessory root, root canals and Vertucci canal configuration for each tooth was recorded. Data analysis was done using SPSS v20. Descriptive statistics were calculated for each anatomical parameter. Chi-square test was applied to determine association of gender with the presence of accessory roots and root canals., Results: Among the 111 records evaluated, 48.6% were males and 51.4% were females. No accessory root was found in the central and lateral incisors. However, an accessory root was found in 4.9% of the canines. The incidence of accessory canals in the central incisors, lateral incisors and canines was 18.9%, 25.2% and 10.4% respectively. The most common canal configuration in teeth with accessory canals was Type-III, followed by Type-II and Type-V., Conclusion: None of the central or lateral incisor showed accessory root while it was detected in 4.9% canines. The frequency of accessory root canal was found to be 18.9%, 25.2% and 10.4% in central incisors, lateral incisors and canines respectively. The most common canal configuration was Type-I, followed by Type-III and Type-II. Type-V, VI and VII were less common., Competing Interests: Conflict of interest: None., (Copyright: © Pakistan Journal of Medical Sciences.)

Purpose: KBG syndrome (KBGS) is a rare neurodevelopmental syndrome caused by haploinsufficiency of ANKRD11. The childhood phenotype is extensively reported but limited for adults. Thus, we aimed to delineate the clinical features of KBGS., Methods: We collected physician-reported data of adults with molecularly confirmed KBGS through an international collaboration. Moreover, we undertook a systematic literature review to determine the scope of previously reported data., Results: The international collaboration identified 36 adults from 31 unrelated families with KBGS. Symptoms included mild/borderline intellectual disability (n = 22); gross and/or fine motor difficulties (n = 15); psychiatric and behavioral comorbidities including aggression, anxiety, reduced attention span, and autistic features (n = 26); nonverbal (n = 3), seizures with various seizure types and treatment responses (n = 10); ophthalmological comorbidities (n = 20). Cognitive regression during adulthood was reported once. Infrequent features included dilatation of the ascending aorta (n = 2) and autoimmune conditions (n = 4). Education, work, and residence varied, and the diversity of professional and personal roles highlighted the range of abilities seen. The literature review identified 154 adults reported across the literature, and we have summarized the features across both data sets., Conclusion: Our study sheds light on the long-term neurodevelopmental outcomes, seizures, behavioral and psychiatric features, and education, work, and living arrangements for adults with KBGS., Competing Interests: Conflict of Interest The authors declare no conflicts of interests., (Copyright © 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Background: Common etiological factors have been reported in the development of molar-incisor hypomineralisation (MIH) and dental anomalies (DA)., Aim: To assess the association between MIH and DAs., Design: A cross-sectional study was performed to evaluate the presence of MIH and other six DAs in a sample of 415 pretreatment records from patients aged 9-18 years. Statistical analyses were performed using the chi-squared and Fisher's exact tests, and logistic regressions., Results: There was statistically significant association between the prevalence of DAs and MIH (CI: 1.43-2.43, φ-coefficient: 0.204, PR: 1.87). Higher percentage of tooth agenesis (CI: 1.37-1.68, φ-coefficient: 0.271, PR: 1.50), maxillary premolar agenesis (CI: 1.70-3.65, φ-coefficient: 0.125, PR: 2.49), mandibular second premolar agenesis (CI: 1.68-3.16, φ-coefficient: 0.172, PR: 2.30) and distoangulation of the mandibular second premolars (CI: 1.31-3.47, φ-coefficient: 0.103, PR: 2.13) was observed among children who had MIH-affected teeth. Individuals with MIH had a 2.95 times greater chance of having DAs (R 2  = .153). The number of patients with DAs was higher when the first molar showed severe defects (OR = 4.47; R 2  = .149)., Conclusion: There is a weak association between MIH and DAs. Patients with severe MIH lesions have a slightly higher risk of presenting DAs., (© 2024 BSPD, IAPD and John Wiley & Sons Ltd.)

Hearing impairments and dental anomalies are found in many genetic syndromes. Otodental syndrome is a rare combination of hearing loss and the presence of a pathognomonic dental phenotype known as globodontia, in which the tooth exhibits an abnormal globe shape. There is no histologic evidence of structural anomalies in the enamel, dentin, or pulp. This report describes the case of a 12-year-old boy who had hearing loss and 2 supernumerary globe-shaped teeth in the sites of the permanent maxillary central incisors. The diagnosis of otodental syndrome was established based on the clinical, radiographic, and histologic features, but other conditions, including dens evaginatus, talon cusp, dens invaginatus, and compound odontoma, should be included in the differential diagnosis. Dental treatment consisted of the extraction of both anomalous teeth, allowing spontaneous eruption of the impacted permanent central incisors. Early diagnosis of otodental syndrome permits a multidisciplinary approach to prevent other pathologic conditions, reduce functional damage, and avoid social problems., Competing Interests: No conflicts of interest reported.

Unique anatomical deviations in canal structure are rare in anterior teeth, especially central incisors, and thus risk being overlooked. For successful intervention, a meticulous diagnostic procedure and treatment plan, significantly aided by cone-beam computed tomography (CBCT), are crucial. The case at hand explores the management of a maxillary left central incisor in a cleft palate patient, characterized by multiple developmental lobes, a bulbous crown, and an atypical root anatomy. The primary symptom was pain, accompanied by a history of trauma at age 8 years and ensuing tooth discoloration. Initial evaluations, augmented by CBCT, revealed pulpal necrosis in a single-rooted tooth with three distinct canals. Initial clinical examination was supplemented by electrical pulp testing, RadioVisioGraphy (RVG), and CBCT, after which the root canal therapy was initiated. Informed consent was obtained from the patient. The access cavity preparation resulted in a three-orifice cavity. Subsequently, the canals were enlarged and sufficiently debrided. Calcium-hydroxide was applied for 2 weeks before the commencement of apexification and obturation, followed by esthetic rehabilitation. This case highlights the importance of recognizing rare anatomical variations in anterior teeth and demonstrates the invaluable role of CBCT in both diagnosing and managing such complexities., Competing Interests: There are no conflicts of interest., (Copyright: © 2024 Journal of Conservative Dentistry and Endodontics.)

Objectives: This study aims to provide insights into the developmental characteristics of the upper lateral incisor in individuals with unilateral clefts., Materials and Methods: Panoramic radiographs of a consistent group of Caucasian children taken over time (ages 6, 9, and 12) were extensively reviewed. The study assessed the distribution pattern, eruption path, tooth development, and crown size of the upper lateral incisor within the cleft region., Results: The most commonly observed distribution pattern was the lateral incisor located distal to the cleft, accounting for 49.2% of cases. Furthermore, a significant delay in tooth development of the upper lateral incisor on the cleft side was noted at ages 6 and 9 (p > 0.001). Compared with the non-cleft side, these incisors often erupted along the alveolar cleft and exhibited microdontia (88.3%, p < 0.041)., Conclusion: Lateral incisors on the cleft side display unique distribution patterns, microdontia, and delayed tooth development. Careful monitoring of the cuspid eruption is essential, as it can influence the eruption of the lateral incisor., Clinical Relevance: A comprehensive understanding of the development of the upper lateral incisor relative to the cleft is vital for determining its prognosis over time. The position of the upper lateral incisor can also influence the timing and prognosis of secondary alveolar bone grafting. Preserving the upper lateral incisor favors arch length, perimeter, and symmetry in individuals with unilateral clefts., (© 2024. The Author(s).)

Background: Human sexual dimorphism is associated with many biological characteristics, including dental variables., Objectives: To investigate if molars fused roots present sex-associated differences., Methods: Panoramic radiographs were used to investigate the frequency and distribution of permanent molars fused roots. Only patients with all first and second permanent molars were included. Third molars were not investigated. Any molar with roots fused apical to the usual furcal position were considered molar fused roots. Comparisons between males and females were performed using chi-square or Fisher's and Mann-Whitney tests and the established alpha was 5% (p<0.05). Sex-differential liability models were also proposed., Results: A total of 84 males and 86 females were included and 1360 molars were analyzed. Among them, 46 (26.06%) present at least one molar with fused root. Second maxillary molars were the most affected teeth. There was an association between sex and molars with fused roots. Females had a 3.4 higher chance to present fused roots than males (OR=3.4, CI 95% 1.6-6.8; p=0.0008). The female: male ratio of molars with fused roots was 2.5:1. The number of molars with fused roots ranged from 1 to 6 per patient, and the mean number of Females presented more molars with fused roots (mean = 1.01; standard deviation = 1.52) than males (mean = 0.31; standard deviation = 0.85) (p<0.05)., Conclusions: Molar fused root of permanent teeth presents sex-associated differences, in which females are more affected than males. Our results support sex-differential liability models for molars fused roots., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier GmbH.. All rights reserved.)

Objective: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health., Study Design: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development., Results: All individuals with KS presented cleft lip and/or palate, 11 (73.34%) tooth abnormalities, 5 (33.34%) congenital cardiopathies, 12 (80%) infectious or immunologic diseases, 1 (6.67%) nephropathy, and 14 (93.34%) had an intellectual disability., Conclusion: Individuals with KS often have dental anomalies such as hypodontia, cleft or palate, and systemic disorders such as congenital heart disease and infectious diseases. Intellectual disability is present in most cases. These alterations should be investigated as early as possible to prevent the increase in morbidity in these individuals., Competing Interests: Declaration of interest None., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: Amelogenesis Imperfecta (AI) is a disorder of tooth development characterized by abnormal enamel formation. In order to detect other dental and jawbone abnormalities that could be associated with AI, a retrospective and analytic study was conducted comparing panoramic radiographs of AI and non-AI patients., Material and Methods: Digital panoramic radiographs of 60 AI and 60 non-AI patients were examined. Abnormalities in dental number, size, shape, eruption, and in the shape of the dental arches were checked and blindly recorded by two experimented observers. Descriptive statistics using percentages and chi-square test with .05 level of significance value was used., Results: Prevalence of supernumerary teeth, dental agenesis, microdontia, taurodontism, radicular dilacerations, dental inclusions, temporary teeth persistence, and pulp calcifications was significantly higher in AI patients compared to control patients. Prevalence of periapical images, cysts, and hypercementosis was lower in AI patients compared to control patients, with no statistically significant difference. A significant prevalence of mandibular hypoplasia was also noted in AI patients., Conclusion: In addition to enamel defect, panoramic radiography was useful in detecting other dental abnormalities and mandibular hypoplasia associated with AI and should therefore be systematically indicated for AI patients' care., (© 2023 Special Care Dentistry Association and Wiley Periodicals LLC.)

Objective: This study assesses the degree of root curvature in patients with non-syndromic cleft lip and/or palate (NSCL/P)., Design: Retrospective. Case-control study., Setting: Root curvature was assessed in lower premolars and molars in 800 panoramic radiographs: 400 from patients with cleft and 400 from healthy control individuals. Root curvature was classified according to its angulation, as well as its apical, medial, or coronal localization., Results: The frequency of mild curvature in the NSCL/P group compared to the control group was higher in premolars especially in the left second premolar in cleft palate (OR: 6.91; 95% CI: 3.23-14.77; P  < .0001). The frequency of moderate curvature in molars was significantly higher in the cleft group, with the highest risk in the right first molar in the cleft lip group (OR: 2.74; 95% CI: 1.67-4.52; P  < .0001). Inclination was more frequently observed in the apical third of the root in the group with cleft, whereas for the control group, the curvature was more frequent in the medial third. In patients with cleft, the OR of curvature in the apical third was significant in premolars (left lower second premolar: Cleft lip, OR: 1.91; 95% CI: 1.04-3.52; P  = .03; right lower second premolar: Cleft lip, OR: 1.91, 95% CI: 1.04-3.50; P  = .03, cleft lip and palate, OR: 1.75; 95% CI: 1.12-2.73; P  = .01)., Conclusion: The results of the current study indicate differences in root curvature in patients with non-syndromic cleft lip and/or palate, which should be considered during the dental treatment planning of patients., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we show a novel olfactory bulb phenotype in a KBG syndrome mouse model and two diagnosed patients. Conditional knockout of Ankrd11 in murine embryonic neural stem cells leads to aberrant postnatal olfactory bulb development and reduced size due to reduction of the olfactory bulb granule cell layer. We further show that the rostral migratory stream has incomplete migration of neuroblasts, reduced cell proliferation as well as aberrant differentiation of neurons. This leads to reduced neuroblasts and neurons in the olfactory bulb granule cell layer. In vitro, Ankrd11-deficient neural stem cells from the postnatal subventricular zone display reduced migration, proliferation, and neurogenesis. Finally, we describe two clinically and molecularly confirmed KBG syndrome patients with anosmia and olfactory bulb and groove hypo-dysgenesis/agenesis. Our report provides evidence that Ankrd11 is a novel regulator of olfactory bulb development and neuroblast migration. Moreover, our study highlights a novel clinical sign of KBG syndrome linked to ANKRD11 perturbations in mice and humans., (© 2024. The Author(s).)

Introduction: The increase in survival rates in children treated for cancer has been accompanied by a rise in sequelae in permanent teeth. The aim of the study was to correlate the type of cancer therapy administered to patients during early childhood and the dental sequelae recorded in survivors., Material and Methods: Single-center retrospective cohort study carried out at the Children's University Hospital of Sant Joan de Déu in Barcelona, Spain. Hundred and nine patients who had received cancer treatment during early childhood were randomly examined and grouped according to diagnosis and cancer therapy received. The type of therapy was correlated with the number and severity of dental lesions that patients presented in adolescence., Results: Dental sequelae of some kind were present in 85.3% of patients. Microdontia was the most prevalent (52.3%). Treatment with alkylating agents had a relative risk of presenting moderate lesions of 3.36 (1.18-9.60), and one of 2.29 (1.07-4.91) of presenting severe lesions. Topoisomerase inhibitors and cytotoxic antibiotics presented relative risks of 1.6 (1.07-2.38) and 2.08 (1.02-4.26) of root alterations and agenesis, respectively., Conclusions: Treatment with alkylating agents together with cytotoxic antibiotics and topoisomerase inhibitors was associated with a higher relative risk of microdontia, agenesis, and root shortening., (© 2022 The Authors. Oral Diseases published by Wiley Periodicals LLC.)

We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo - Auricolo - Dento - Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome., (© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)

Dispersal patterns in primates have major implications for behavior and sociality but are difficult to reconstruct for fossil species. This study applies novel strontium isotope methodologies that have reliably predicted philopatry and dispersal patterns in chimpanzees and other modern primates to previously published strontium isotope ratios ( 87 Sr/ 86 Sr) of two South African hominins, Australopithecus africanus and Australopithecus robustus. In this study, the difference or 'offset' was calculated between the 87 Sr/ 86 Sr of each fossil tooth compared to local bioavailable 87 Sr/ 86 Sr as defined by cluster analysis of modern plant isotope ratios. Large teeth (presumably belonging to males) have low offsets from local 87 Sr/ 86 Sr proxies, while small teeth (presumably from females) have greater offsets from local 87 Sr/ 86 Sr proxies. This supports previous conclusions of male philopatry and female dispersal in both A. africanus and A. robustus. Furthermore, A. robustus shows more extreme differences between presumed males and females compared to A. africanus. This is analogous to differences seen in modern olive baboons compared to chimpanzees and suggests that A. africanus may have had a larger home range than A. robustus. Neither hominin species has 87 Sr/ 86 Sr consistent with riparian habitat preferences despite the demonstrated presence of riparian habitats in South Africa at the time., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Despite the advances in high-throughput sequencing, many rare disease patients remain undiagnosed. In particular, the patients with well-defined clinical phenotypes and established clinical diagnosis, yet missing or partial genetic diagnosis, may hold a clue to more complex genetic mechanisms of a disease that could be missed by available clinical tests. Here, we report a patient with a clinical diagnosis of Tuberous sclerosis, combined with unusual secondary features, but negative clinical tests including TSC1 and TSC2 Short-read whole-genome sequencing combined with advanced bioinformatics analyses were successful in uncovering a de novo pericentric 87-Mb inversion with breakpoints in TSC2 and ANKRD11 , which explains the TSC clinical diagnosis, and confirms a second underlying monogenic disorder, KBG syndrome. Our findings illustrate how complex variants, such as large inversions, may be missed by clinical tests and further highlight the importance of well-defined clinical diagnoses in uncovering complex molecular mechanisms of a disease, such as complex variants and "double trouble" effects., (© 2024 Rodrigues Alves Barbosa et al.)

Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by severe intellectual disability, early-onset epileptic seizures, and amelogenesis imperfecta. Here, we present a novel Rogdi mutant mouse deleting exons 6-11- a mutation found in KTS patients disabling ROGDI function. This Rogdi -/- mutant model recapitulates most KTS symptoms. Mutants displayed pentylenetetrazol-induced seizures, confirming epilepsy susceptibility. Spontaneous locomotion and circadian activity tests demonstrate Rogdi mutant hyperactivity mirroring patient spasticity. Object recognition impairment indicates memory deficits. Rogdi -/- mutant enamel was markedly less mature. Scanning electron microscopy confirmed its hypomineralized/hypomature crystallization, as well as its low mineral content. Transcriptomic RNA sequencing of postnatal day 5 lower incisors showed downregulated enamel matrix proteins Enam, Amelx, and Ambn. Enamel crystallization appears highly pH-dependent, cycling between an acidic and neutral pH during enamel maturation. Rogdi -/- teeth exhibit no signs of cyclic dental acidification. Additionally, expression changes in Wdr72, Slc9a3r2, and Atp6v0c were identified as potential contributors to these tooth acidification abnormalities. These proteins interact through the acidifying V-ATPase complex. Here, we present the Rogdi -/- mutant as a novel model to partially decipher KTS pathophysiology. Rogdi -/- mutant defects in acidification might explain the unusual combination of enamel and rare neurological disease symptoms., (© 2024. The Author(s).)

Introduction: This study aimed to compare the characteristics of pleasant and unpleasant smiles from the perception of laypeople., Methods: Two-hundred posed smile photographs were obtained from adult participants with no anomaly, restoration, or severe crowding and spacing in anterior teeth. Photographs were shown to 26 judges to give each photograph a score for attractiveness. Upper and lower quartiles for the most and least rated smiles were determined, and variables including gingival display, smile arc, midline deviation, buccal corridor, smile width, tooth rotation or malposition, diastema, upper and lower vermilion show, and tooth form were measured. Independent-sample t test and Pearson chi-square analysis were used to determine the differences between the pleasant and unpleasant groups for quantitative and qualitative variables, respectively. The linear regression model revealed variables with the most significant impact on the mean score., Results: All quantitative and qualitative variables except tooth form significantly differed between pleasant and unpleasant smile groups (P <0.05). The consonant smile arc was associated with an increase of 12.59% in mean scores compared with the inconsonant smile arc. Each tooth reported with malposition was correlated with a decrease of 9.37% in the scores. In the same way, each 1-mm increase in midline diastema and occlusal cant coincided with a drop of 8.73% and 3.59% in scores, respectively., Conclusions: The results of this study suggested that smile arc, tooth malposition, midline diastema, and occlusal plane canting had the most impact on smile esthetics and should be given priority by orthodontists in the treatment plan of choice., (Copyright © 2023 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.)

Background: Ectodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes., Method: Here, we describe a new observation of significant oligodontia in a female patient with the EDA gene variant c.742-2A>G., Results: The results strongly suggest that the EDA gene variant c.742-2A>G is pathogenic. The oligodontia in the proband was exceptionally severe., Conclusion: We demonstrate that the very rare splice acceptor variant EDA c.742-2A>G is associated with severe oligodontia even in females. Our study points that this variant is pathogenic. An early identification of this variant is crucial for planning adequate treatment and follow-up in time by a multidisciplinary team., (© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Objective: The aim of this study was to assess the frequency of mandibular second premolar (MnP2) distoangulation among orthodontic patients and the angular changes after a longitudinal follow-up., Methods: The sample was collected from the orthodontic records of 865 patients. The distoangulation group was composed of 42 patients (mean age 9.29 ± 1.24 years, 16 male, 26 female) with distoangulation of MnP2. The control group was composed of 32 patients (mean age 9.38 ± 1.10 years, 15 male, and 17 female) without distoangulation of MnP2. Panoramic radiographs taken in the mixed (T1) and the early permanent dentition (T2) were analyzed in both groups. Longitudinal angular changes (distal angle θ and premolar-molar angle γ), degree of root formation, second premolar depth, and prevalence of associated dental anomalies were analyzed. Intergroup comparison was performed with Mann-Whitney, t-tests, and chi-square tests (P < 0.05)., Results: The prevalence of MnP2 distoangulation in the mixed dentition was 4.85%. The distoangulation group showed a smaller initial distal angle (59.34o ± 8.41) when compared to control group (79.88o ± 7.60). The spontaneous eruption of the MnP2 with distoangulation was observed in 76.57% of the sample. MnP2 distoangulation was significantly associated with agenesis of its antimere, small maxillary lateral incisors, and deciduous molar infraocclusion., Limitations: Severe cases of MnP2 distoangulation were absent in this study., Conclusions: The frequency of MnP2 distoangulation among orthodontic patients was 4.85%. Mild to moderate distoangulated Mnp2 spontaneously uprighted from the mixed to the permanent dentition. Small lateral incisors, second premolar agenesis, and infraocclusion of deciduous molar were frequently found in cases with MnP2 distoangulation., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background: Osteopetrosis comprises a group of inherited disorders that are rare and result in abnormal bone structure. Bone remodeling is extremely inhibited because osteoclasts are nonfunctional or lacking. This condition causes overgrowth of bone with disappearance of the bone marrow, leading to aplastic anemia; obstruction of nerve passages in the skull leads to blindness and often hearing impairment. In most cases, osteopetrosis results in oral complications such as tooth deformation, hypomineralization, and delayed or absent tooth eruption. The only curative treatment is hematopoietic stem cell transplantation (HSCT). The main treatment of the oral complications during childhood and adolescence consists in protecting the erupted teeth against caries disease through prophylactic treatment aimed at optimal oral hygiene through frequent regular dental visits throughout life. Many patients with osteopetrosis require major oral rehabilitation to treat complications of the disease. Improved results of HSCT increase the likelihood that dental professionals will encounter patients with osteopetrosis., Case Presentation: In this case report, we show that individuals with osteopetrosis who have severe oral complications can be treated successfully if they are treated for osteopetrosis at an early age. The boy had his dental care in pedodontics, and regular multidisciplinary meetings were held for future treatment planning. At the age of 15, he was then referred for rehabilitation. The initial evaluations revealed no further growth in the alveolar bone. The rehabilitation was done stepwise, with extraction of malformed and malpositioned teeth. Initially, the patient received a removable partial denture followed by reconstruction of the width of the alveolar process, titanium implants, temporary fixed bridges, and finally screw-retained titanium-ceramic bridges with titanium frames for the upper and lower jaws., Conclusions: The three-year follow-up after loading indicated a stable marginal bone level and optimal oral hygiene as a result of frequent professional oral hygiene care. The patient showed no signs of symptoms from the temporomandibular joint and has adapted to the new jaw relation without any functional or phonetical issues., (© 2023. The Author(s).)

Segmental odontomaxillary dysplasia (SOD) is an uncommon and likely underrecognized developmental condition. In rare cases, SOD can also result in anomalies of the ipsilateral mandibular alveolar process and teeth. This report presents two cases of SOD with mandibular involvement to highlight this potential variation in SOD presentation. These cases help shed new light on our understanding of the disease mechanism and pathoetiology, while also informing clinicians to be diligent in imaging the ipsilateral mandible for dental anomalies in their patients with SOD. Based on the involvement of both jaws, the name change to 'segmental ipsilateral odontognathic dysplasia' is justified to better reflect its pathophysiology.

The multidrug nature of anticancer treatment and different treatment protocols used in the studies are likely to be a major limitation in establishing real risk factors determining the occurrence of dental abnormalities. The authors aimed to establish a relationship between the duration and the dose of chemotherapy and the number of tooth adverse effects in the group receiving the same treatment. Of the 40 anticancer therapy recipients who attended the outpatient dental clinic, 7 leukemia survivors receiving the treatment according to the ALL IC-BFM 2002 protocol were selected. The study group consisted of four females and three males aged 92 to 207 months at the time of dental examination and 29 to 91 months at leukemia diagnosis. As a result of the clinical and radiological examination, dental abnormalities such as agenesis, tooth size reduction, root abnormalities, and taurodontia were identified, and the medical records of all survivors were reviewed in terms of drugs administered, their doses, and treatment schedules. No correlation was observed between the treatment duration of an intensive therapy, the entire therapy, and the number of tooth abnormalities. No relationship was also found between the number of dental abnormalities and the cumulative dose of vincristine, L-asparaginase, methotrexate, cyclophosphamide, cytarabine, and 6-mercaptopurine. The age at the onset of antineoplastic therapy is likely to be the strongest risk factor for toxic injury during tooth development.

Tooth number anomalies, including hyperdontia and hypodontia, are common congenital dental problems in the dental clinic. The precise number of teeth in a dentition is essential for proper speech, mastication, and aesthetics. Teeth are ectodermal organs that develop from the interaction of a thickened epithelium (dental placode) with the neural-crest-derived ectomesenchyme. There is extensive histological, molecular, and genetic evidence regarding how the tooth number is regulated in this serial process, but there is currently no universal classification for tooth number abnormalities. In this review, we propose a novel regulatory network for the tooth number based on the inherent dentition formation process. This network includes three intuitive directions: the development of a single tooth, the formation of a single dentition with elongation of the continual lamina, and tooth replacement with the development of the successional lamina. This article summarizes recent reports on early tooth development and provides an analytical framework to classify future relevant experiments.

Tooth transposition is a challenge for orthodontists, especially in correcting the order of teeth. At present, the literature on transposition canines mainly focuses on epidemiological studies and case reports, and no systematic treatment guidance has been formed. In this article, the definition and classification, epidemiology and etiology, imaging diagnosis, treatment and risk control of transposed canines are systematically described in order to provide reference for clinical practice.

Background: Otodental syndrome is a rare autosomal dominant condition characterised by a dental phenotype known as globodontia often associated with high-frequency hearing loss. Globodontia occurs both in the decidous and permanent dentition and affects canine and molar teeth.

The aim of this cross-sectional study was to assess the prevalence and severity of dental anomalies according to age at cancer treatment and type of antineoplastic protocol using the Modified Dental Defect Index (MDDI) and to explore the association between MDDI scores and caries experience in Italian childhood cancer survivors (CCS). A total of 88 CCSs (age range 6-20 years) treated with chemotherapy and/or radiotherapy for malignant diseases and in remission from at least 2 years were consecutively recruited from March 2019 to July 2022. All participants were examined for dental caries and enamel defects in the permanent dentition according to the decayed-missing-filled teeth (DMFT) index and the Aine rating scale. Dental abnormalities were diagnosed using panoramic radiographs and graded for severity according to the MDDI. The MDDI values were categorized as normal (MDDI, 0), moderately abnormal (1 ≤ MDDI < 16), and severely abnormal (MDDI ≥16). None of the enrolled children had normal MDDI score. MDDI and DMFT values were higher in CCSs submitted to cancer treatment before 5 years of age, while no statistically significant association was found with anticancer protocols. A significant positive correlation emerged between DMFT and MDDI values ( p < 0.001). CCSs with moderately abnormal disturbances had statistically significant lower DMFT scores ( p < 0.001) than those with severe dental abnormalities. These findings suggest that children in remission from malignant diseases with MDDI values ≥16 have poorer dental health and should be strictly monitored by dental specialists., Competing Interests: The authors declare no conflict of interest. Patrizia Defabianis is serving as one of the Editorial Board members of this journal. We declare that Patrizia Defabianis had no involvement in the peer review of this article and has no access to information regarding its peer review. Full responsibility for the editorial process for this article was delegated to LCM., (©2023 The Author(s). Published by MRE Press.)

The aim was to characterise the endocannabinoid system (ECS) in the dental pulp of teeth at different stages of eruption. Pulp of: erupted premolars (EPM), third molars in pre-eruptive (PThM), intraosseous (IThM) and eruptive stages (EThM) (n = 12 each group) were used. Messenger RNA expression of components of the ECS as cannabinoid receptors (CBr1 and CBr2), and anandamide synthetizing (NAPE-PLD) and degradation (FAAH) enzymes were measured by RT-PCR. Data were analysed using Student's t-test for comparisons between two groups and one-way analysis of variance and Tukey's post-test for multiple comparisons (statistical significance: p < 0.05). mRNA expression of CBr2, NAPE-PLD and FAAH was similar in the studied stages, was lower in IThM than in PThM and EThM, and the lowest in EThM (p < 0.01); of note, CBr2 mRNA expression was not detected in EThM. CBr1 mRNA did not differ significantly between IThM and PThM but was lower in EThM (p < 0.01). The absence of CBr2 and presence of CBr1 in EThM suggest the involvement of the ECS via CBr1 as a mediator of tooth and bone tissue homeostasis during tooth eruption., (© 2022 Australian Society of Endodontology Inc.)

Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process. Here we aimed to find the failure pattern of tooth eruption among five genetic diseases. Both systematic review and meta-analysis were used to identify the genotype-phenotype associations of unerupted teeth. The meta-analysis was based on the characteristics of abnormal tooth eruption in 223 patients with the mutations in PTH1R, RUNX2, COL1A1/2, CLCN7, and FAM20A respectively. We found all the patients presented selective failure of tooth eruption (SFTE). Primary failure of eruption patients with PTH1R mutations showed primary or isolated SFTE1 in the first and second molars (59.3% and 52% respectively). RUNX2 related cleidocranial dysplasia usually had SFTE2 in canines and premolars, while COL1A1/2 related osteogenesis imperfecta mostly caused SFTE3 in the maxillary second molars (22.9%). In CLCN7 related osteopetrosis, the second molars and mandibular first molars were the most affected. While FAM20A related enamel renal syndrome most caused SFTE5 in the second molars (86.2%) and maxillary canines. In conclusion, the SFTE was the common characteristics of most genetic diseases with abnormal isolated or syndromic tooth eruption. The selective pattern of unerupted teeth was gene-dependent. Here we recommend SFTE to classify those genetic unerupted teeth and guide for precise molecular diagnosis and treatment., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Objectives: Molar-root incisor malformation (MRIM) is a seldom reported condition characterised by disturbances in root development of first permanent molars. This systematic review aimed to collate the clinical characteristics of individuals diagnosed with MRIM., Materials and Methods: A systematic search strategy using PubMed, Embase, Web of Science, and SCOPUS databases was performed through to March 2023. Inclusion criteria were case reports or case series including a diagnosis consistent with MRIM. Critical appraisal for all included studies utilised the Joanna Briggs Institute (JBI) critical appraisal checklist for case reports and case series and collation of clinical characteristics was performed in JBI System for the Unified Management, Assessment and Review of Information program., Results: The search identified 157 studies from which 35 satisfied the inclusion criteria. After full-text review, a total of 23 papers described the MRIM dental anomaly and were included in this paper. A total of 130 reported cases were retrieved, with age ranging 3-32 years, and males affected 1.16:1 females. Presence of neurological conditions, premature birth history, medication, and surgery within first years of life were synthesised and described., Conclusions: The aetiology of MRIM is yet to be determined but epigenetic changes from significant medical history in the first years of life are likely to influence the development of this root malformation. First permanent molars were most commonly affected, but clinicians should be aware that permanent central incisors, primary teeth and other permanent teeth may also be affected., (© 2023. BioMed Central Ltd., part of Springer Nature.)

This study aimed to develop an artificial intelligence (AI) model using deep learning techniques to diagnose dens evaginatus (DE) on periapical radiography (PA) and compare its performance with endodontist evaluations. In total, 402 PA images (138 DE and 264 normal cases) were used. A pre-trained ResNet model, which had the highest AUC of 0.878, was selected due to the small number of data. The PA images were handled in both the full (F model) and cropped (C model) models. There were no significant statistical differences between the C and F model in AI, while there were in endodontists (p = 0.753 and 0.04 in AUC, respectively). The AI model exhibited superior AUC in both the F and C models compared to endodontists. Cohen's kappa demonstrated a substantial level of agreement for the AI model (0.774 in the F model and 0.684 in C) and fair agreement for specialists. The AI's judgment was also based on the coronal pulp area on full PA, as shown by the class activation map. Therefore, these findings suggest that the AI model can improve diagnostic accuracy and support clinicians in diagnosing DE on PA, improving the long-term prognosis of the tooth., (© 2023. Springer Nature Limited.)