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The infraocclusion (IO) of primary molars, often seen in retained deciduous teeth, is a common condition that presents significant challenges for pediatric oral health. It occurs when primary molars are positioned below the occlusal plane due to the absence of permanent successors, leading to complications such as misaligned teeth, impaired chewing, and long-term dental health issues. Objectives: This study examines IO prevalence, diagnosis, and treatment approaches. Methods: A systematic review following PRISMA guidelines was conducted, searching PubMed, Web of Science, and Scopus for articles from the last 15 years. Nine articles were included for qualitative analysis. Results: IO was associated with several complications, including root resorption, altered eruption of adjacent teeth, and space loss within the dental arch. Clinical and radiographic evaluations are key to early detection. Severe cases often require invasive treatments, such as tooth extraction and space maintenance, while mild cases could be monitored. Conclusions: IO is prevalent in pediatric dentistry and can lead to significant dental issues if untreated. Early detection and intervention are crucial for preventing complications like tooth misalignment and impacted premolars. Tailored treatment strategies based on severity, along with increased awareness among dental practitioners, are essential to improve long-term outcomes for affected children. [ABSTRACT FROM AUTHOR]

Background: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families. Case presentation: Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients' intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands. Results were validated by Sanger DNA sequencing which was also used to follow segregation of the variants in first-degree relatives. Dental abnormalities and congenital cataracts were present in all five cases, whilst other signs were variable and included facial dysmorphism, microphthalmia, and cardiac and skeletal abnormalities. Two individuals had cleft lip and/or cleft palate. Radiculomegaly occurred in three patients with permanent teeth and was diagnosed on orthopantomograms. Two patients had agenesis of permanent teeth. Malocclusion was also present in two patients due to crowding and a Class III malocclusion and mandibular overjet. De novo novel pathogenic variants in the BCOR gene were identified; c.2382del p.(Lys795Argfs*12) and c.3914dup p.(Gln1306Alafs*20) and co-segregated with the disease in each family. Conclusions: The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care. [ABSTRACT FROM AUTHOR]

Objectives: X‐linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in matched controls undergoing similar orthodontic procedures. Materials and Methods: For this retrospective case–control study, we included all individuals less than 16 years old diagnosed with XLH, orthodontically treated in our centre from 2016 to 2022 and pair‐matched them to patients with no chronic or genetic conditions. Clinical and radiological parameters concerning their malocclusion, craniofacial discrepancy and the characteristics and iatrogenic effects of their orthodontic treatment were analysed. Results: Fifteen XLH patients (mean age: 11.3 ± 2.1), pair‐matched to 15 control patients were included. Orthodontic treatment was successfully conducted in XLH patients with slightly shorter duration and similar iatrogenic effects as in the control group, except for the occurrence of dental abscess during and after orthodontic tooth movement. XLH patients did not show more relapse than the controls. Conclusion: Despite the presence of oral manifestations of XLH such as spontaneous abscesses, XLH patients can undergo orthodontic treatment with no obvious additional iatrogenic effects. [ABSTRACT FROM AUTHOR]

Abstract Background The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families. Case presentation Dental examinations were carried out. An orthopantomogram was taken in three patients, and all patients’ intraoral cavities and teeth were photographed. Exome sequencing was performed in both probands. Results were validated by Sanger DNA sequencing which was also used to follow segregation of the variants in first-degree relatives. Dental abnormalities and congenital cataracts were present in all five cases, whilst other signs were variable and included facial dysmorphism, microphthalmia, and cardiac and skeletal abnormalities. Two individuals had cleft lip and/or cleft palate. Radiculomegaly occurred in three patients with permanent teeth and was diagnosed on orthopantomograms. Two patients had agenesis of permanent teeth. Malocclusion was also present in two patients due to crowding and a Class III malocclusion and mandibular overjet. De novo novel pathogenic variants in the BCOR gene were identified; c.2382del p.(Lys795Argfs*12) and c.3914dup p.(Gln1306Alafs*20) and co-segregated with the disease in each family. Conclusions The OFCD syndrome has a unique dental phenotype and dentists should be aware of signs of this ultra-rare genetic disorder. All patients with congenital cataracts and dental abnormalities, including those without a family history, should be referred for genetic testing and indicated to specialised dental care.

Background and objectives: Dental anomalies are significant deviation in the normal size, structure, number, root formation or shape of a tooth. It can affect primary and permanent dentition. The aim of the present study was to determine the prevalence of developmental dental hard tissue anomalies in the permanent dentition of adolescents in two southeastern Nigerian rural communities. Materials and methods: This cross-sectional descriptive study was conducted among school children aged 12-13 years attending two public secondary schools. The schools were located in Nkanu-West and Udi Local Government areas in Enugu state. Oral examination for the presence or absence of developmental dental hard tissue anomalies was performed by a single examiner. Statistical analysis was done using SPSS Version 25. Results: A total of 61 (44.9%) males and 75(55.1%) females participated in the study. The age range of the children was 12 to 13 years with mean age of 12.49 ± 0.50 years. The prevalence of developmental dental hard tissue anomalies was 2.2%. Developmental dental hard tissue anomalies were seen only in females, higher among 13-year-old school children and school children from middle socioeconomic status. Enamel hypoplasia was seen more than peg shaped lateral incisor. There was no statistically significant association with sex (p = 0.25), age (p = 0.61), socioeconomic status (p= 0.25) and developmental dental hard tissue anomalies. Conclusion: The prevalence of developmental dental hard tissue anomalies was low in this study. Developmental dental hard tissue anomalies can affect aesthetics and quality of life. A visit to dental clinic for clinical assessment, preventive interventions and management is recommended. January 2025; Vol. 19(1):002. DOI: https://doi.org/10.55010/imcjms.19.002 *Correspondence: Obehi. O Osadolor, Department of Child Dental Health, University of Nigeria Teaching Hospital, Ituku- ozalla, Enugu State. Nigeria. E-mail: osadolorobehi@yahoo.com; © 2025 The Author(s). This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0).

Traditionally, dental identification techniques are used to establish identity or assist in reconstructing an individual's biological profile. However, other aspects of identity, namely socioeconomic status (SES), can be estimated through teeth. This work aims to evaluate the influence of SES on third molar agenesis in a Portuguese population. X-rays from 448 subjects (223 belonging to a high and 225 to a low socioeconomic status) were assessed and demographic data (age, sex) and dental history were registered. Frequencies and associations between the variables were analyzed using the chi-square test. For each group, differences between third molar agenesis were studied using the Wilcoxon test. The significance level was 5%. X-rays displaying at least one agenesis were more common in females (in both SES groups). Differences between socioeconomic status were found in female subjects' upper right and lower left third molars, with a higher frequency of agenesis in the lower SES group. Agenesis of lower third molars displayed fluctuant asymmetry in both groups, whereas agenesis of upper third molars was also present in the lower SES group. These results suggest that socioeconomic status can affect third molar agenesis prevalence, and fluctuant asymmetry seems more prevalent in the lower SES, as it affects all third molars. [ABSTRACT FROM AUTHOR]

Background: Artificial intelligence (AI) based on deep learning (DL) algorithms has shown promise in enhancing the speed and accuracy of dental anomaly detection in paediatric dentistry. Aim: This systematic review aimed to investigate the performance of AI systems in identifying dental anomalies in paediatric dentistry and compare it with human performance. Design: A systematic search of Scopus, PubMed and Google Scholar was conducted from 2012 to 2022. Inclusion criteria were based on problem/patient/population, intervention/indicator, comparison and outcome scheme and specific keywords related to AI, DL, paediatric dentistry, dental anomalies, supernumerary and mesiodens. Six of 3918 initial pool articles were included, assessing nine DL sub‐systems that used panoramic radiographs or cone‐beam computed tomography. Article quality was assessed using QUADAS‐2. Results: Artificial intelligence systems based on DL algorithms showed promising potential in enhancing the speed and accuracy of dental anomaly detection, with an average of 85.38% accuracy and 86.61% sensitivity. Human performance, however, outperformed AI systems, achieving 95% accuracy and 99% sensitivity. Limitations included a limited number of articles and data heterogeneity. Conclusion: The potential of AI systems employing DL algorithms is highlighted in detecting dental anomalies in paediatric dentistry. Further research is needed to address limitations, explore additional anomalies and establish the broader applicability of AI in paediatric dentistry. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the applicability of transplanted teeth in young patients with craniofacial anomalies Design: Observational study Setting: Comprehensive Centre for Cleft Palate and Craniofacial Malformations Patients/Participants: Patients with craniofacial anomalies who underwent tooth transplantation. Only children with complete clinical and radiological documentation and a follow-up period of at least 1.5 years were included. Interventions: Tooth transplantation Main Outcome Measure(s): Retrospective evaluation of clinical records, pre- and postoperative radiographs, and operative charts. Clinical characteristics of patients, preoperative parameters and postoperative outcome parameters were collected. Results: A total of 17 patients with 23 tooth transplantations were included. The median follow-up period was 6.7 years. The pooled survival and success rates were 91%. Notably, one out of two teeth that were transplanted into the bone grafted alveolar cleft site had to be extracted, which might indicating a higher risk for this procedure. In total, two transplanted teeth had to be extracted during the follow-up period, one due to external resorption and the other one due to perio-endo lesion. One patient needed endodontic treatment due to pulp necrosis. Conclusion: We consider tooth transplantation to be a reliable and suitable procedure in the dental rehabilitation of young patients with craniofacial anomalies and fitting concomitant circumstances. We encourage craniofacial teams to reconsider this option more frequently in appropriate cases. [ABSTRACT FROM AUTHOR]

Floating–Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating–Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case. [ABSTRACT FROM AUTHOR]

Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and molecular studies were performed. Patients were found to have congenital insensitivity to pain, self-mutilation, acro-osteolysis, cornea scars, reduced temperature sensation, tooth agenesis, root maldevelopment, and underdeveloped maxilla and mandible. The skin biopsies revealed fewer axons, decreased vimentin expression, and absent neurofilament expression, indicating lack of dermal nerves. Whole exome and Sanger sequencing identified a rare homozygous variant c.4039C>T; p.Arg1347Cys in the plakin domain of Plec, a cytolinker protein. This p.Arg1347Cys variant is in the spectrin repeat 9 region of the plakin domain, a region not previously found to harbor pathogenic missense variants in other plectinopathies. The substitution with a cysteine is expected to decrease the stability of the spectrin repeat 9 unit of the plakin domain. Whole mount in situ hybridization and an immunohistochemical study suggested that Plec is important for the development of maxilla and mandible, cornea, and distal phalanges. Additionally, the presence of dental anomalies in these patients further supports the potential involvement of Plec in tooth development. This is the first report showing the association between the Plec variant and congenital insensitivity to pain in humans. [ABSTRACT FROM AUTHOR]

Aim: To investigate the prevalence of tooth agenesis and associated dental anomalies in Latvian adolescent dental patients and compare it to other European countries. Design: Cross-sectional study of 2692 11-to-14-year-old patients (39.9% males and 60.1% females) attending Riga Stradins University Institute of Stomatology with panoramic radiographs taken between August 2020 and September 2021. Patients with any genetic syndromes were excluded. Data on tooth agenesis (excluding third molars) and other dental anomalies were recorded. Results: The prevalence of tooth agenesis in Latvian adolescent dental patients was 9.3% with no statistically significant difference between genders (χ2 test, p = 0.472). The most commonly missing teeth were mandibular second premolars, followed by upper lateral incisors and upper second premolars. There was a statistically significant association with the presence of other dental anomalies in tooth agenesis patients (p < 0.001). Conclusions: This study found that the prevalence of non-syndromic tooth agenesis in Latvian adolescent dental patients was 9.3% with no statistically significant differences between the genders. Patients with tooth agenesis have a statistically significant possibility of the presence of other dental anomalies (p < 0.001). [ABSTRACT FROM AUTHOR]

Background: The maternal diet is essential to offspring development, but the specific effects on tooth morphology are still unknown. The aim of this study was to evaluate the effects of altering maternal calcium (Ca) and phosphorus (P) supplementation during gestation and lactation on offspring dentition. Methods: Pregnant mice were fed an experimental diet containing a threefold increase in Ca and a threefold decrease in P compared to the standard mouse chow diet at embryonic Day 0.5 (E0.5). Offspring mice were maintained on standard or experimental diets from post‐natal Day 0 to weaning, then fed control diets until 6 weeks of age. Six‐week‐old offspring heads were collected and scanned using micro‐computed tomography. Dental morphometrics of offspring maxillary and mandibular first and third molars (n = 5–6 per diet/per sex) were determined. A two‐way ANOVA test was employed to verify the existence of any significant differences between groups. The significance level was set at P <.05. Results: A two‐way ANOVA revealed a statistically significant interaction between the effects of diet and sex on the upper and lower dentition. Moreover, experimental diet‐fed female offspring exhibited smaller molars with shorter mesiodistal width and larger pulp chambers relative to controls, while experimental diet‐fed male offspring possessed larger molars with wider mesiodistal width and smaller pulp chambers. Conclusion: Our findings reveal that altering the maternal and offspring dietary Ca:P ratio during gestation, lactation and weaning led to significant, sex‐specific changes in the offspring dentition. The differences in dentition appeared to be correlated with the sex‐specific changes in the craniofacial skeleton. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to determine the prevalence of common dental anomalies in children. Methods: In this study, 5280 digital orthopantomographic images of patients aged 5-16 years were retrospectively analyzed. A total of 3619 digital orthopantomographic images that met the study criteria were evaluated. Descriptive statistics of the categorical data obtained were analyzed using percentage and frequency analyses, followed by Pearson Chi-Square or Fisher’s Exact test for binary group comparisons. The significance level for statistical analyses was set at (p < 0.05). Results: In the individuals included in the study, at least one dental anomaly was detected in 13.78%. Numerical anomalies were the most commonly observed type of anomaly, with hypodontia being the anomaly with the highest prevalence in this group. A statistically significant difference was observed between genders in the frequency of supernumerary teeth, ectopy, and mesiodens (p > 0.05). Conclusion: Dental anomalies can occur in different types in humans. Clinicians can prevent future dental problems that may occur in later ages with the early diagnosis and treatment of dental anomalies. [ABSTRACT FROM AUTHOR]

Nance Horan Syndrome (NHS) is a rare congenital genetic condition. However, due to the sporadicity of cases and the similarity in manifestations of mild NHS with X-linked cataracts, it is difficult for clinicians and researchers to diagnose and treat NHS. Therefore, we undertake a comprehensive review of the existing literature on the oral manifestations of NHS and, its definitive diagnosis based on oral and craniofacial symptoms. An electronic search of PubMed-MEDLINE, Embase, Scopus, and Google Scholar databases was done to retrieve case reports documenting oral anomalies related to NHS at the time of presentation. Genetic studies or studies focussing on the genetic analysis of the case were excluded. Descriptive statistics were used to calculate simple frequency, percentages, and proportions to identify trends and commonalities in presenting symptoms and oral assessment findings. Out of 2086 identified studies, 12 studies that met the inclusion criteria were reviewed. Most patients' ages ranged from between 4 and 12 years of age. Out of 31 affected individuals, 11 were females and 20 were males. Screwdriver-shaped incisors (75 %) often accompanied by the presence of supernumerary teeth and diastema (66 % studies), Hutchinson incisors (50 % studies), Mulberry molar (41.6 %) malocclusion (58.3 % studies) were commonly seen. Besides that, talon cusps, agenesis/non-eruption of teeth, premolars, and Taurodontism were also observed. Facial dysmorphism was common in all the studies. An in-depth understanding of these anomalies will enable dental practitioners to provide specialised care, including focused interventions and preventive measures to address the oral health issues associated with NHS.

Background: Pediatric dental anomalies refer to irregularities or abnormalities in the development, structure, or positioning of the teeth in the oral cavity of children. These anomalies can encompass a wide range of conditions that affect the number, size, shape, and structure of teeth. In Karachi, there is limited evidence regarding the prevalence of dental anomalies in children. Objective: This study investigated the prevalence of dental anomalies in the pediatric population of the Abbasi Shaheed Hospital, Karachi, Pakistan. Material and Methods: A cross-sectional study was conducted among 278 children aged between 3 and 12 years. The socio-demographic and thorough medical history were recorded on a predesigned performa. The diagnosis of all dental anomalies was based on clinical interpretation using sterilized mouth mirrors, probes, or tongue depressors. Difficult cases were addressed by senior faculty members. Data analysis was conducted using SPSS version 19. Descriptive statistics were used to present the frequency and Mean ± SD. Result: The prevalence of dental anomalies was 7.4%. in the study area. Male-to-female ratio was 2.2:1. Boys exhibited a higher prevalence of 10.05% compared to girls (4.3%). Peg Lateral Incisors and Fusion/Gemination were the most common anomalies among both genders. Dilaceration, Dentinogenesis Imperfecta, Amelogenesis Imperfecta, Talon Cusp, Anodontia, and supernumerary Tooth (disto-molar) were not identified in either boys or girls. The highest number of dental anomalies was recorded at ages 11 and 12 years. Conclusion: The prevalence of dental anomalies was high in the study area, underscoring the significance of early diagnosis and careful management to prevent complications.

Genetic factors play a significant role in the complex etiology of non-syndromic tooth agenesis. However, little is known about the genetic components that affect frequently occurring dental variations. Our objectives were to examine the correlation between different morphometric characteristics of the upper first permanent molars and genetic variants of the MSX1 gene in subjects with known genetic changes. Morphometric measurements were made for 31 individuals with non-syndromic tooth agenesis and 69 controls, with known genetic background. A total number of 167 upper permanent molar teeth were examined. To determine the morphological changes of the upper first permanent molars, the dental cast of each participant was examined. We observed statistically significant results at the level of the MSX1 rs12532 and MSX1 rs8670 genes when we examined the presence and the size of the cusp of Carabelli. Variations in morphological results were linked to the MSX1 rs8670 mutation and our results demonstrate that patients without hypodontia have more frequent Carabelli cusps than subjects with hypodontia.

Abstract Background Oculo-facio-cardio-dental (OFCD) syndrome is a rare condition that affects the eyes, face, heart, and teeth of patients. One notable dental characteristic of OFCD is radiculomegaly, or root gigantism, which highlights the role of dentists in detecting this syndrome. OFCD is an X-linked dominant syndrome that results from a variant in the BCOR gene. Our study presents the first documented case of OFCD in Vietnam and reports a novel BCOR gene variant observed in this case. Case presentation A 19-year-old Vietnamese female patient with an extremely long root with an abscess was clinically examined for the expression of OFCDs. The radiograph and the variant in BCOR gene were also evaluated. We identified abnormalities in the teeth, as well as ocular, facial, and cardiac features, with radiculomegaly of the canines being a specific symptom for OFCDs. The patient’s genetic analysis revealed a pathogenic heterozygous deletion at intron 11 of the BCOR gene, representing a novel variant. Conclusion Oculo-facio-cardio-dental syndrome (OFCD) is an extremely rare condition characterized by abnormalities in the eyes, face, heart, and teeth, often caused by variants in the BCOR gene. Radiculomegaly, or enlarged dental roots, is a key diagnostic feature of OFCD, and early detection is crucial for preventing future dental complications.

The infraocclusion (IO) of primary molars, often seen in retained deciduous teeth, is a common condition that presents significant challenges for pediatric oral health. It occurs when primary molars are positioned below the occlusal plane due to the absence of permanent successors, leading to complications such as misaligned teeth, impaired chewing, and long-term dental health issues. Objectives: This study examines IO prevalence, diagnosis, and treatment approaches. Methods: A systematic review following PRISMA guidelines was conducted, searching PubMed, Web of Science, and Scopus for articles from the last 15 years. Nine articles were included for qualitative analysis. Results: IO was associated with several complications, including root resorption, altered eruption of adjacent teeth, and space loss within the dental arch. Clinical and radiographic evaluations are key to early detection. Severe cases often require invasive treatments, such as tooth extraction and space maintenance, while mild cases could be monitored. Conclusions: IO is prevalent in pediatric dentistry and can lead to significant dental issues if untreated. Early detection and intervention are crucial for preventing complications like tooth misalignment and impacted premolars. Tailored treatment strategies based on severity, along with increased awareness among dental practitioners, are essential to improve long-term outcomes for affected children.

Introduction: SATB2-associated syndrome is an extremely rare genetic disorder. It is characterized by delayed neurocognitive development, craniofacial anomalies and dental defects. Observation: This case report highlights the craniofacial and dental phenotype linked to a mutation resulting in SATB2-associated syndrome affecting a 13-year-old boy. Conclusion: The diagnosis of this syndrome is very difficult. The management using a multidisciplinary strategy includes among others, oral hygiene maintenance, orthodontic treatment and intensive speech therapy. [ABSTRACT FROM AUTHOR]

Background: Panoramic radiographs (PRs) are used in the detection and diagnosis of developmental dental anomalies and pathologies (DDAPs) in children. Aim: The primary objective of this observational cohort study was to evaluate the age‐based prevalence of DDAP on PRs, whereas the secondary objective was to determine a threshold age for the detection of DDAP to provide supportive evidence for the prescription of PR in paediatric dental practice. Design: The study examined diagnostic PRs from 581 subjects aged 6 to 19 years. All PRs were reviewed by experienced, calibrated, masked examiners for the identification or presence of anomalies in size, shape, position, structure, and other developmental anomalies and pathologies (ODAP) of the face–neck region in a standardized condition. The data were statistically analyzed for interpretation. Results: Overall, 74% (n = 411) of the cohort had at least one anomaly (shape anomaly: 12%, number anomaly: 17%, positional anomaly: 28%, structural anomaly: 0%, and ODAP: 63%). The optimal Youden index cutoff for any anomaly was 9 years. Twelve and 15 years also showed predictive ability. Conclusion: The results suggest that PRs should be prescribed at ages 9, 12, and 15 years for the diagnosis of DDAP. [ABSTRACT FROM AUTHOR]

Transposition of teeth may present to the general dental practitioner and in some circumstances transposed teeth may present with other dental anomalies. Although dental transpositions are rare anomalies, management of transposed teeth can often be complex, requiring multidisciplinary management. It is therefore important for dentists to be familiar with the clinical and radiographic presentation of transpositions and understand the aetiology to aid early diagnosis and appropriate management. Clinical relevance: Dentists are best placed to detect transposed teeth and should be familiar with the clinical and radiographic presentation, aetiology, and classification of transpositions in order to aid early diagnosis and their subsequent management. [ABSTRACT FROM AUTHOR]

Dental anomalies are common disorders in clinical practice. Their frequency prevents the normal positioning of other teeth within the arch resulting in occlusal changes and facial growth. Early diagnosis and intervention reduce complications. The primary aim of this study was to evaluate the prevalence of dental anomalies according to frequency, distribution and gender status. As a secondary outcome, the study examined the correlation between dental anomalies and skeletal malocclusions in the sagittal direction. Material and method: the study includes 100 patients of both sexes. Through intraoral clinical examination, orthopantomography analysis and study models, dental abnormalities were evaluated according to groups (number, size, shape, position and structure of teeth); gender and affected teeth in the maxilla and mandible. In lateral cephalometric, the skeletal ratio was analyzed in the posterior-anterior direction where the ANB angle was determined as class I malocclusion (from 2º to 4º), class II malocclusion (> 4º) and class III malocclusion (< 2º). Conclusion: rotation and inclination were the most frequent 50 (50.0%) and the rarest were 5 (5.0%) concrescence and dens invaginatus 5 (5.0%). Of the patients, 51 (51.0%) had two dental anomalies, 24 (24.0%) had three dental anomalies, 14 (14.0%) had one dental anomaly. Hypodontia 5 (62.5%) and microdontia 4 (50.0%) were associated with skeletal class III, a statistically significant association was observed for p< 0.05. [ABSTRACT FROM AUTHOR]

Sella turcica (ST) is one of the bony structures used as an indicator for predicting skeletal growth and development of dental and skeletal malocclusions in humans.The aim of this investigation is to assess the correlation between the morphological characteristics of the ST and the occurrence of dental anomalies. Мaterials and methods: The study group comprised 109 patients (62 males and 47 females) aged 8-17 years. All subjects were evaluated cephalometrically. The dental anomalies (hypodontia, hyperdontia, palatally displaced canine, transposition and impaction of teeth) were determined by clinical and radiographic examination. The morphology of ST was estimated on a ceph x-ray through analysis of its length, depth and anteroposterior diameter. The results showed the presence of hypodontia in 52 subjects, the palatally displaced canine in 2, and a canine impaction only in 1 patient. A significant difference in the depth and anteroposterior diameter of ST (p < 0.001) were found between the groups with and without dental anomalies. There were no significant differences between groups for length values of ST. Conclusion: Knowing the morphological characteristics of ST in a certain population is of great importance for taking early orthodontic treatment in order to prevent the occurrence of later severe disorders in the craniofacial complex. Orthodontists need to know the various morphologies of the ST to differentiate normal from abnormal appearance. [ABSTRACT FROM AUTHOR]

Cleidocranial dysplasia (CCD) is a rare autosomal dominant congenital syndrome occurring in approximately one in every million individuals worldwide, primarily affecting bones undergoing intramembranous ossification. Individuals with CCD exhibit hypoplasia or aplasia of the clavicles, open fontanelles and shorter stature, along with various forms of dental abnormalities. The gene RUNX2 plays an essential role in odontoblast and osteoblast differentiation, regulating the expression of many genes associated with the development of hard dental tissues. CCD is this accompanied by characteristic dental abnormalities such as supernumerary teeth, delayed eruption and impaction of permanent teeth. Intrafamilial variations of skeletal and dental abnormalities are well-known. The aim of this study is to present a clinical case and provide a diagnostic approach as a guide for practicing dentists, thereby facilitating their future work with these patients. [ABSTRACT FROM AUTHOR]

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Aim: To determine the prevalence of different types of dental anomalies using cone-beam computed tomography (CBCT) images among the Al-Hasa population in Saudi Arabia and compare these variables between genders and nationalities. Materials and Methods: A retrospective study involving 509 CBCT images, in which patients were grouped based on their gender and nationality. The presence of dental anomalies was determined through the evaluation of CBCT images. Version 28 of the Statistical Package for the Social Sciences (IBM Corp., Armonk, NY, USA) was utilized to analyze the data, chi-square tests and multivariate analysis of variance were used, and P value was fixed at =0.05. Results: Out of the 509 CBCT images reviewed, a total of 135 patients (26.5%) exhibited one or more dental anomalies. Impacted canines had the highest prevalence among all types of impacted teeth, with a rate of 9.2%. Impacted premolars and molars (excluding third molars) had a lower prevalence of 2.6% and 1.2%, respectively. Impacted incisors had the lowest prevalence of 0.8%. Among dental anomalies affecting the number, position, and shape of teeth, the prevalence rates are as follows: congenitally missing teeth (6.7%), supernumerary teeth (2.2%), dilaceration (8.1%), microdontia (3.1%), ectopic eruption (2.6%), rotation (1.8%), and transposition (0.2%). Conclusions: The prevalence of dental anomalies is relatively high, with impacted canines being the most prevalent impacted teeth excluding third molars, whereas dilaceration was the most common anomaly affecting the shape of teeth. The prevalence of anomalies did not differ significantly between genders, except for rotation. Additionally, there was no significant difference reported in nationalities. [ABSTRACT FROM AUTHOR]

This article explores the relationship between genetic variations and dental variations in individuals with and without tooth agenesis. Specifically, the study focuses on the correlation between morphological variations of the upper first permanent molars and genetic variants of the MSX1 gene. The results indicate that individuals without the gene mutation are more likely to have larger Carabelli cusps. Additionally, the study found that Carabelli cusps are more common in men and that men tend to have larger cusps compared to women. This research provides valuable insights into the genetic factors that contribute to dental variations. [Extracted from the article]

Binder's syndrome is a rare congenital deformity characterized by midface hypoplasia, particularly around the nasomaxillary area. Genetic etiology or developmental failure caused by prenatal exposure to teratological agents has been considered. In this article, we present 3 related rhesus monkeys born with orofacial deformities similar to those found in infants with the Binder phenotype. For the first time, a primate biomodel for this condition is presented. The clinical description and association with management and environmental factors are discussed. These findings reinforce the knowledge about the relationship between possible vitamin K metabolism interference and Binder's syndrome. [ABSTRACT FROM AUTHOR]

Background: Dental anomalies can lead to malocclusions, compromise aesthetics, complicate endodontic procedures and tooth extraction. The presence of dental anomalies can predispose the individual to other oral and dental diseases. The aim of this study was to investigate the prevalence of dental anomalies of permanent dentition in a sample of Iranian population.Material and Methods: Through this cross-sectional study, panoramic radiographs which were taken from September 2016-2020 were retrieved form the archived files of a private radiographic center in Bushehr, Iran. Radiographs of individuals with permanent dentition were selected, and a random sample was obtained using a non-randomized cluster sampling method. Radiographs were evaluated by a single oral and maxillofacial radiologist, and dental anomalies were identified and categorized. Descriptive statistics were presented as frequency, mean and standard deviation. Chi-square test was used and significance level was set at 0.05.Results: A total of 4962 radiographs were evaluated; 913 cases (18. 40%) had at least one dental anomaly. Abnormalities such as dens in dent (10. 3%), congenital missing (3. 35%) and impaction (2. 64%) were the most prevalent. The permanent left maxillary lateral incisor was the most common tooth in terms of prevalence of dental anomalies. The prevalence of dental anomalies in males was significantly higher than females (P= 0.03)Conclusion: Anomalies in morphology, number especially dens in dente and missing were the most common anomalies in the investigated population. The prevalence of dental anomalies was significantly higher in the maxilla and especially in the lateral incisors. Therefore, early identification and treatment is necessary in order to prevent the complications caused by these anomalies.

Aim: This retrospective cross-sectional study aimed to determine the prevalence of delayed development and eruption of permanent maxillary first molars (U6) and associated dental anomalies in a sample of Saudi children. Material and methods: In total, 10,232 panoramic radiographs from 9,672 patients were screened for delayed U6 eruption. Radiographs showing delayed U6 eruption were further examined for associated dental anomalies. The dental age of participants was estimated using The London Atlas of Human Tooth Development and Eruption. Result: Twenty cases of delayed U6 eruption were found, with a prevalence of 0.2%. Of these patients, 3 and 17 were males and females, respectively; 9 and 11 cases were unilateral and bilateral, respectively. Congenital absence of the adjacent permanent second molar was observed in 8 cases, and the congenital absence of permanent teeth, except the adjacent second permanent molar and third molar, was observed in 6 cases. Peg-shaped lateral incisors were observed in 6 females. No significant associations were observed between delayed U6 eruption and dental anomalies. Overall, the average delayed U6 eruption was 2.3 years for males and 2.8 years for females. Conclusion: Among a sample of Saudi children, the prevalence of delayed U6 eruption was 1 in 483 (0.2%) and five times higher in females. No significant associations were found between delayed U6 eruption and dental anomalies; however, congenital absence of the adjacent permanent second molar was observed in 40% of cases.

Purpose: Evaluate if there is a significant association between the position and inclination of the unerupted maxillary canine measured on a panoramic radiograph, and their relationship to gender, age of the patient and stage of dentition. Methods: 138 panoramic radiographs were examined for this retrospective cross-sectional investigation. Only patients living in Madrid, Spain with mixed dentition were included. These measurements were performed on radiographs, considering the inclination and position of the maxillary canines with regards to the midline, and height with respect to the occlusal plane. Spearman's correlation coefficient was used to analyze the relation among the canine angle and height. p < 0.05 was considered to be significant. Results: The prevalence of patients with an altered canine angle was 10%, while 43.5% had an apparently abnormal position (overlapping at least half of the adjacent lateral incisor root). No statistically significant association was found between these two variables. In 5% of the patients, the maxillary canine was with an anomalous angle and position. Significant differences were obtained when comparing canine height between children with ectopic canines and normal canines (p = 0.032). Conclusion: No significant association was found between the position and inclination of the unerupted maxillary canine in our sample. Ectopic maxillary canines had a higher incidence in girls, although we did not find statistically significant differences between genders. We observed a higher prevalence of abnormal position and inclination of the permanent maxillary canine in early mixed dentition. Maxillary canines were significantly elevated, further from the occlusal plane, in children with ectopic canines. [ABSTRACT FROM AUTHOR]

This retrospective cross-sectional study aimed to determine the prevalence of delayed development and eruption of permanent maxillary first molars (U6) and associated dental anomalies in a sample of Saudi children. In total, 10,232 panoramic radiographs from 9,672 patients were screened for delayed U6 eruption. Radiographs showing delayed U6 eruption were further examined for associated dental anomalies. The dental age of participants was estimated using The London Atlas of Human Tooth Development and Eruption. Twenty cases of delayed U6 eruption were found, with a prevalence of 0.2%. Of these patients, 3 and 17 were males and females, respectively; 9 and 11 cases were unilateral and bilateral, respectively. Congenital absence of the adjacent permanent second molar was observed in 8 cases, and the congenital absence of permanent teeth, except the adjacent second permanent molar and third molar, was observed in 6 cases. Peg-shaped lateral incisors were observed in 6 females. No significant associations were observed between delayed U6 eruption and dental anomalies. Overall, the average delayed U6 eruption was 2.3 years for males and 2.8 years for females. Among a sample of Saudi children, the prevalence of delayed U6 eruption was 1 in 483 (0.2%) and five times higher in females. No significant associations were found between delayed U6 eruption and dental anomalies; however, congenital absence of the adjacent permanent second molar was observed in 40% of cases. [ABSTRACT FROM AUTHOR]

Objectives: The presence of dental anomalies could play a significant role in the identification of individuals by comparing antemortem and postmortem data. This crosssectional study aimed to assess the level of knowledge, attitude, and awareness among dental professionals regarding the importance of charting dental anomalies and maintaining dental records. Methodology: A self-structured questionnaire was e-mailed to dental professionals practicing in India. The responses were recorded, data tabulated, and one-way ANOVA and post hoc tests were applied for analysis. The criterion for significance was p < .05. Results: A total of 406 dental professionals responded to the survey. A significant difference was observed in the mean attitude score of participants towards the importance of charting dental anomalies and maintaining dental records with regard to place of work (p=.001), gender (p=.044) and educational qualification (p=.039). In addition, a statistically significant difference was observed in the mean awareness score of participants with respect to place of work (p=.033) and gender (p=.001). The major barriers in maintaining dental records were lack of time, adequate knowledge, infrastructure, and financial constraints. Conclusion: 81.3% and 69.26% study participants had very good awareness and attitude, whereas 71.2% had good knowledge regarding the importance of charting dental anomalies and maintenance of dental records; however, their inaccurate responses in anomaly identification hinted towards the need for proper dental charting and their maintenance to be taught en masse and made part of the BDS curriculum. [ABSTRACT FROM AUTHOR]

To assess the prevalence and severity of and describe dental anomalies in children treated for acute lymphoblastic leukemia (ALL) under recent Dana-Farber Cancer Institute (DFCI) protocols. Methods: Patients aged between 14 and 25 years old having received a diagnosis of ALL before the age of 11 years and after September 2000 received clinical and radiographic oral examinations. Results: Dental anomalies were observed in 26 (51.0 percent) of 51 subjects. Microdontia was the most prevalent dental defect (39.2 percent). Impacted permanent second molars were observed in five (9.8 percent) patients. Being age five years or younger at diagnosis significantly increased the prevalence and severity of dental anomalies (P<0.001). Conclusions: Recent DFCI protocols showed a decreased prevalence of dental disturbances. The anomalies observed may still alter the development of the dental arches and occlusion in pediatric ALL survivors. Further research is needed to confirm the association between ALL treatment and permanent second molar impaction. [ABSTRACT FROM AUTHOR]

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Copyright of Selcuk Dental Journal is the property of Selcuk Dental Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Weill-Marchesani syndrome (WMS, OMIM# 227600) is a genetically determined, rare systemic connective tissue disorder. The syndrome is divided into four types according to mutations in related genes. Given the limited number of individuals with WMS in the literature, no genotype-phenotype correlations for ADAMTS10, ADAMTS17, FBN1, or LTBP2 have been identified. In the accessible literature, none of the limited studies were focused on the oral and dental anomalies of WMS. The present case report describes oral and dental findings of a 63 months old female patients with WMS2.

ABSTRACTBackground Kabuki Syndrome is a rare genetic alteration of autosomal origin, known for five characteristics called Niikawa’s Pentad: skeletal abnormalities, short stature, mild to moderate intellectual and developmental disabilities, facial dysmorphism, dermatoglyphic alterations, and postnatal growth deficiency.Case description The present report aimed to highlight the main oral manifestations of Kabuki Syndrome in a nine-year-old patient, emphasizing the importance of a correct diagnosis and multidisciplinary care.Continuing Education Credit Available The practice worksheet is available online in the supplementary material tab for this article. A CDA Continuing Education quiz is online for this article: https://www.cdapresents360.com/learn/catalog/view/20.

Forensic odontology plays a crucial role in establishing the identity in mass disasters and criminal cases with high accuracy. Dental anomalies and features help in such situations. Congenital and developmental dental anomalies can be easily documented to establish distinctive and individualistic characteristics of an individual. The location, number of teeth involved, and the type of anomaly vary between individuals. Similarly, dental malformations also assist greatly in the identification process. Many types of dental anomalies have been studied in the past for their individualistic characteristics in forensic examinations. One such dental anomaly is odontoma, which is a benign odontogenic malformation. This malformation may also help in the identification of the deceased, when recorded and examined accurately. An odontome is a malformed teeth‐like structures consisting of enamel, dentin, and pulpal tissue, formed due to the growth of completely differentiated epithelial and mesenchymal cells. If antemortem (AM) dental records incorporate information regarding odontomes and other dental anomalies, including in radiographs, orthopantomograms or microradiographs, positive identification may be established by comparison of these records with postmortem (PM) records. In the present communication, a rare case of compound composite odontoma in the anterior mandible with multiple denticles has been discussed with a brief overview of congenital and developmental dental anomalies. The authors emphasize the importance of such rare dental anomalies and malformations which may be used for identifying the deceased in mass disasters and forensic identification. [ABSTRACT FROM AUTHOR]

Cleft lip and palate have a complex inheritance, and 90% of its variation in the population is due to genetic contributors. The impact of surgical procedures on maxillofacial growth is well known, but the interference of intrinsic factors in these growth outcomes is not elucidated. The present study aimed to analyze genetic polymorphisms and frequency of dental anomalies as predictors of maxillofacial growth in patients born with cleft lip with or without cleft palate. From a cohort of 537 individuals, operated on by the same surgeon, 121 were analyzed 2 times, to define changes in maxillary growth prognosis by occlusal scores in a minimum 4-y follow-up. In a second step, a subset of 360 individuals had maxillofacial growth outcomes evaluated using Wits, nasion perpendicular to point A, and occlusal scores. The markers MMP2 rs9923304, GLI2 rs3738880 and rs2279741, TGFA rs2166975, and FGFR2 rs11200014 and rs10736303 were genotyped, and frequency of dental anomalies and cleft severity were determined to define evidence of overrepresentation of alleles associated with maxillofacial growth outcomes. Age and age at primary surgical treatment, sex, and cleft laterality were variables adjusted in the analysis. We found an association between the frequency of dental anomalies and the maxillofacial growth in unilateral (P = 0.001) and bilateral (P = 0.03) individuals with clefts. MMP2 rs9923304 and maxillofacial growth were associated (P < 0.0001). There was also an association between GLI2 rs3738880 and TGFA rs2166975 and maxillary outcomes in individuals born with unilateral cleft lip and palate (P = 0.003 and P = 0.004, respectively), as well as between FGFR2 rs11200014 and maxillary outcomes regardless of cleft type (P = 0.005). Statistical evidence of an interaction between MMP2 rs9923304 and GLI2 rs3738880 was observed (P < 0.0001). Presence of dental anomalies and genetic variation in MMP2, GLI2, TGFA, and FGFR2 were associated with worse maxillofacial growth outcomes in individuals born with clefts. [ABSTRACT FROM AUTHOR]

Sella turcica, which keeping the pituitary gland inside, is frequently used in cephalometric analysis during the orthodontic treatment planning because it can be easily detected in lateral cephalometric radiographs. Embryologically, the cartilage forming the anterior wall of the sella turcica develops from the neural crest cells. Similarly, it has been reported that the dental epithelial progenitor cells and maxillary, palatal and frontonasal development regions also generated from neural crest cells and these cells are effective in sella turcica bridging and tooth development and eruption. Thus, in the literature, the variations in sella turcica dimensions and morphology has been associated with different craniofacial and dental anomalies due to its relationship with pituitary gland, development origin, and anatomic position. At this point, the correct analysis of sella turcica, provide early diagnosis of the anomalies and pathologies that can be arise in the future. However, it has been observed that conflicting results were obtained from these studies in which subjects with different ethnical origin, age, and craniofacial morphologies were evaluated and different radiographic techniques were used. In this review, it was aimed to examine these studies which were evaluated the association of sella turcica dimensions and morphology with different craniofacial and dental anomalies.

Abstract Background To evaluate the prevalence and the distribution of dental anomalies in an Albanian orthodontic sample. Methods For this retrospective study, a sample of panoramic radiographs (PR) of n. 779 (456 F and 323 M, mean age of 15.1 ± 5.5 years) Albanian subjects with no genetic syndromes or craniofacial malformations (e.g., cleft lip/palate), history of extraction, trauma or previous orthodontic treatment drawn from the archives of the University Dental Clinic Our Lady of Good Counsel, was examined. The inclusion criteria were: subjects from 8 to 30 years of age, good quality of PRs in order to allow the assessment of crown and root development. For different dental anomalies, both the prevalence and the association were evaluated by using Chi-square test (p 0.05). Conclusions The most common anomalies in this group are found to be those of number and position, and only radiological investigations can reveal either of these anomalies. Early diagnosis of dental anomalies can contribute to prevent their complications and to establish the most suitable therapy to achieve a functional occlusion.

Introduction: Dental anomalies (DA) are changes in the number, shape, structure, size and pattern of eruption of teeth and their etiology is multifactorial, early diagnosis and proper treatment are essential for an occlusal, functional and aesthetic harmony. Objective: To identify the 100 most cited articles on dental anomalies. Methods: A search was performed in the Thompson Reuters Web of Science (WOS) database on May 31, 2021. The search strategy was performed using the keywords obtained from the Medical Subject Headings (MeSH) index. The following data were extracted and analyzed: number of citations, title, authors, year of publication, title of scientific journals, type of study and subject field. Results: The search strategy resulted in 69,014 articles and the most cited studies were concentrated between 1945-2012, mainly in orthodontic journals. Twenty-four percent of all papers were published in orthodontic journals. Number of citations ranged from 98 to 482, and The United States was the most prolific country. Number anomalies and structural changes were the most studied thematic fields, totaling 79 articles. Laboratory studies were the most cited type of studies. Conclusion: Number anomalies and structural changes were the most studied thematic fields. There was a predominance of laboratory studies and The United States was responsible for most of the papers included.

We describe the first known case of disproportionate dwarfism in bats. The specimen is an adult male Seba's short-tailed bat, Carollia perspicillata (Linnaeus, 1758), captured in a ground-level mist net during a survey in a lowland Atlantic Forest area in southeastern Brazil. Examination of the specimen skull showed craniofacial anomalies, including microdontia in the upper incisors, oligodontia in the third upper molars, fusion of the nasal septum and the left ventral nasal concha, and a narrower foramen magnum. Post-cranial changes were mainly related to shortened radius, tibia, and metacarpals, compared to the reference sample in multivariate space. Given its unusual morphology with short wings and average body mass, the dwarf would have higher wing loading, fly faster, require more power to fly, and have a shorter flight range compared to the species pattern. Because it presented good body condition and reached adulthood, possible mechanisms of functional compensation are discussed. [ABSTRACT FROM AUTHOR]

Objectives The objective of this retrospective research was to investigate the prevalence and the association between dental anomalies and malocclusion in a subset of Kosovo's population. Materials and Methods This retrospective descriptive study was conducted by recruiting 557 patients; 215 (38.6%) were males and 342 (61.4%) were females. The age range was from 7 to 44 years. The exclusion criteria were employed for the sample size, and 307 of 864 patients were excluded from the study. Malocclusion groups were divided through Angle's classification, and dental anomalies were defined according to the literature. Pretreatment panoramic radiographs, medical and dental history, study casts, and photographs were included to categorize malocclusion and identify dental anomalies (i.e., hypodontia, ectopic eruption, impaction, and diastema). The data were analyzed with IBM SPSS software version 16.0. The chi-squared test was utilized to calculate the frequency and percentages of malocclusion and dental anomalies. A p -value of 0.05 was considered statistically significant. Results Five hundred and fifty-seven patient records from 2015 to 2020 were included. An increased prevalence of ectopic eruption (24.8%) was found in this study, whereas the least common was hypodontia (7.0%). The most common malocclusion was class I (46.9%). Vertical plane malocclusion demonstrated that 31.4% had a deep bite and 9.5% had an open bite. Most dental anomalies were significantly associated with class I malocclusion and least associated with class III malocclusion. Transverse malocclusion exhibited that 14% had anterior crossbite and 10.8% had posterior crossbite. Posterior crossbite was significantly less in the class III malocclusion group (p = 0.019). Conclusion The prevalence of the selected dental anomalies was overall high in our study; 557 of 864 patients faced dental anomalies. An association was seen between malocclusion and dental anomalies in the Kosovan population, especially with class I malocclusion. Deep bite was prominent in the vertical plane malocclusion, whereas anterior crossbite was the most common finding in the transverse plane. Anterior crowding was prevalent in the maxilla and posterior crowding in the mandible. [ABSTRACT FROM AUTHOR]

Background: Molar incisor hypomineralisation (MIH) is a common disorder of tooth development, which has recently been found to be associated with a higher prevalence of hypodontia. The aim of this international multicentre study is to determine the association between MIH and other developmental anomalies in different populations. Methods: Investigators were trained and calibrated for the assessment of MIH and dental anomalies and ethical approvals obtained in each participating country. The study aimed to recruit 584 children with MIH and 584 children without MIH. Patients aged 7–16 years who attend specialist clinics will be invited to participate. Children will undergo a clinical examination to determine the presence and severity of MIH, using an established index. The presence of any other anomalies, affecting tooth number, morphology, or position, will be documented. Panoramic radiographs will be assessed for dental anomalies and the presence of third permanent molars. Statistical analysis, using a chi squared test and regression analysis, will be performed to determine any differences in dental anomaly prevalence between the MIH and non-MIH group and to determine any association between dental anomalies and patient characteristics. Conclusion: This large-scale study has the potential to improve understanding about MIH with benefits for patient management. [ABSTRACT FROM AUTHOR]

Background: Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the genetic etiology of extra tooth phenotypes, including mesiodens and isolated supernumerary teeth. Methods: Oral and radiographic examinations and whole-exome sequencing were performed on every patient in our cohort of 122 patients, including 27 patients with isolated supernumerary teeth and 94 patients with mesiodens. A patient who had multiple supernumerary teeth also had odontomas. Results: We identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949A>T; p.Thr2317Ser; c.1549G>A; p.Val517Met, c.1921A>G; p.Thr641Ala, and c.850G>C; p.Val284Leu) heterozygous missense variants in FREM2 in eight patients with extra tooth phenotypes. Conclusions: Biallelic variants in FREM2 are implicated in autosomal recessive Fraser syndrome with or without dental anomalies. Here, we report for the first time that heterozygous carriers of FREM2 variants have phenotypes including oral exostoses, mesiodens, and isolated supernumerary teeth. [ABSTRACT FROM AUTHOR]