Search Results (53)

Background/Objectives: Non-syndromic cleft lip with or without palate (NSCL/P) is a common, multifactorial congenital anomaly. As genetic associations can be population-specific, this study aimed to investigate single-nucleotide polymorphisms (SNPs) in the VAX1, MAFB, and WNT3 genes for association with NSCL/P in a Japanese cohort. Methods: A case–control study was conducted with 310 Japanese patients with NSCL/P and 308 ethnically matched healthy controls from Aichi Gakuin Dental Hospital. We genotyped SNPs rs7078160 (VAX1), rs13041247 (MAFB), and rs3809857 (WNT3) using TaqMan assays. Associations were assessed using chi-squared tests, with results stratified by sex and corrected for multiple comparisons using the Bonferroni method. Results: The VAX1 rs7078160 A allele was significantly associated with an increased risk for NSCL/P (OR = 1.67, p < 0.00001). The association was particularly strong in females (OR = 1.93, p < 0.00001) but not significant in males after correction. The MAFB rs13041247 variant showed a nominal protective association with the NSCLO subtype that was not significant after Bonferroni correction. No significant association was found for WNT3. A notable gene–gene interaction was observed, where carrying risk alleles for both VAX1 and MAFB significantly increased overall NSCL/P risk (OR = 2.65, p = 0.00008). Conclusions: VAX1 rs7078160 is a significant risk factor for NSCL/P in the Japanese population, with a pronounced female-specific effect. A synergistic interaction between VAX1 and MAFB elevates disease risk, whereas WNT3 was not implicated in this cohort. These findings underscore the population-specific genetic architecture of NSCL/P. Full article

Background/Objectives: To identify factors associated with the referral by a multiprofessional team to dental services for children and adolescents with rare genetic diseases. Methods: A cross-sectional study was developed with 87 children/adolescents with mucopolysaccharidosis (n = 26) and osteogenesis imperfecta (n = 61) and their caregivers. Recruitment took place at reference centers for rare genetic conditions in five Brazilian states. The caregivers answered a questionnaire on the children. They were examined for malocclusion, dental anomalies, caries experience, and gingivitis. Bivariate and multivariate analyses of the data were performed, considering a 95% confidence level. Results: The average age of children/adolescents was 10.4 years (±5.6) and 17.3% had never gone to a dentist. Among those with past dental experience, the reason for most appointments was oral prophylaxis/preventive maintenance (62.1%). With regard to referrals to a dentist by the multidisciplinary team, 29.9% had never received a referral. The likelihood of having been referred to a dentist by the multiprofessional team was 2.67 times greater for female patients (95% CI: 0.96–7.42) and 7.74 times greater for children/adolescents with a history of toothache (95% CI: 1.61–37.14). Conclusions: Female children/adolescents with mucopolysaccharidosis and osteogenesis imperfecta and those with a history of dental pain were more likely to have been advised by the multiprofessional team to seek dental treatment. Full article

Dens invaginatus is a developmental dental anomaly characterized by the infolding of the enamel organ into the dental papilla during early odontogenesis. This process leads to a broad spectrum of anatomical variations, ranging from minor enamel-lined pits confined to the crown to deep invaginations extending through the root, occasionally communicating with periodontal or periapical tissues. The internal complexity of affected teeth presents diagnostic and therapeutic challenges, particularly in severe forms that mimic root canal systems or are associated with pulpal or periapical pathology. Maxillary lateral incisors are most frequently affected, likely due to their unique developmental timeline and morphological susceptibility. Although various classification systems have been proposed, Oehlers’ classification remains the most clinically relevant due to its simplicity and correlation with treatment complexity. Recent advances in diagnostic imaging, especially cone beam computed tomography (CBCT), have revolutionized the identification and classification of these anomalies. CBCT-based adaptations of Oehlers’ classification allow for the precise assessment of invagination extent and pulpal involvement, facilitating improved treatment planning. Contemporary therapeutic strategies now include calcium-silicate-based cement sealing materials, endodontic microsurgery for inaccessible anatomy, and regenerative endodontic procedures for immature teeth with necrotic pulps. Emerging developments in artificial intelligence, genetic research, and tissue engineering promise to further refine diagnostic capabilities and treatment options. Early detection remains critical to prevent complications such as pulpal necrosis or apical disease. A multidisciplinary, image-guided, and patient-centered approach is essential for optimizing clinical outcomes in cases of dens invaginatus. Full article

Osteoporosis is the most common metabolic bone disorder, characterized by reduced bone mass and abnormal bone microarchitecture, resulting in increased bone fragility and a heightened risk of low-energy fractures. Pediatric osteoporosis may be either primary, due to genetic factors, or secondary, arising from chronic diseases and/or their treatment. Oral health and proper occlusion are integral components of overall health, influencing functionality, nutrition, facial aesthetics, and psychosocial development during childhood. Severe malocclusion can adversely affect speech, mastication, appearance, psychological well-being, and social interactions. The aim of this narrative review is to examine the existing literature on orthodontic anomalies and management strategies in pediatric patients with osteoporosis while highlighting clinical challenges, treatment limitations, and areas necessitating further research. A comprehensive literature search was conducted in the PubMed database, focusing on studies involving human subjects aged 3 to 18 years, published in English between 2002 and 2024. The findings indicate that children with osteoporosis present with more severe dental and occlusal complications compared to their healthy peers, often facing increased orthodontic complexity due to skeletal fragility and systemic comorbidities. These challenges necessitate careful, individualized treatment planning and close multidisciplinary collaboration. Although research in this field remains limited due to the rarity of pediatric osteoporosis, recognizing and addressing the specific needs of this population is critical to improving clinical outcomes and guiding future therapeutic approaches. Full article

Background/Objectives: Vascular anomalies represent a complex group of conditions including vascular malformations and haemangiomas. Haemangiomas are benign tumours that have an endothelial origin. In contrast, vascular malformations are characterized by the abnormal dilation of vessels without proliferation. Depending on the extension of the disease, there is a higher risk of life-threatening haemorrhages that may occur during simple dental procedures. The aim of this case report is to present the interdisciplinary treatment for patients with venous malformation and to discuss the possible dental management of these patients. Methods: A 66-year-old male patient with an extensive venous malformation of the head and neck was referred for a tooth extraction. The venous malformation involved lips, buccal mucosa, tongue, and floor of the oral cavity. Its proximity to the tooth requiring extraction was associated with a high risk of severe bleeding. Results: Prior to the treatment, CBCT and CT scans were performed to confirm the extensions of the lesion and visualise its margins. Considering the possible risks related with venous malformation, the procedure consisted of tooth removal in a hospital setting with control over severe bleeding complications. Conclusions: The presence of an extensive vascular malformation in the head and neck region is burdened with a higher risk of haemorrhages during simple dental procedures. The radiological and clinical planning enables the choice of an accurate treatment strategy to avoid possible difficulties. In cases where such complications cannot be avoided, it is important to perform the treatment in a hospital setting with the cooperation of maxillofacial surgeons. Full article

Chronic kidney disease (CKD) is an extremely widespread pathology characterized by numerous metabolic alterations, including impairments of calcium–phosphorus and of vitamin D metabolisms, which lead to a condition known as CKD–mineral and bone disorders (CKD-MBDs). In CKD children, this pathological condition induces anomalies in physiological growth processes, alterations in bone morphology, renal osteodystrophy and rickets. CKD-MBDs are not only associated with systemic complications but also show dental and maxillofacial manifestations in children. In fact, children affected by CKD-MBDs present defects in enamel development and dental anomalies when compared to healthy children. Therefore, the aims of this narrative review are to focus on the hard dental tissues and to investigate the possible correlation between the CKD-MBDs in children and the presence of developmental defects of enamel. In addition, the possible risk and protective factors of dental caries in CKD pediatric patients are analyzed. The review describes, with a multidisciplinary nephrological–dental approach, the pathogenic mechanisms that can cause anomalies in dental structure in CKD pediatric patients. Full article

Background: Nance–Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature. The objective of this case report is to describe a novel variant in NHS, as well as to discuss genotype–phenotype correlations. Methods: Whole-exome sequencing was performed in 3 affected individuals (2 males and 1 female) with pediatric cataracts from the same family, as well as in 2 unaffected members from the same family. Ophthalmological and clinical genetic evaluations were conducted. Results: The likely pathogenic variant c.3333del (p.Phe1111Leufs*9) was found in all affected individuals, as well as in one unaffected female family member. Our family was initially diagnosed with isolated hereditary cataracts, but only after the sequencing results was the phenotype revealed, with the systemic features being identified. Conclusions: This reinforces the importance of genetic testing of bilateral familial pediatric cataracts, especially since systemic features such as dental anomalies and intellectual disability may take years before they develop. Not only did genetic testing help to identify extraocular features, but it also made possible accurate family counseling essential in all pediatric cataract cases. Full article

Background: The orthodontic management of pediatric patients with rare diseases, such as Ectodermal Dysplasia (ED) and Osteogenesis Imperfecta (OI), requires complex protocols due to dental anomalies in both the number and structure of teeth. These conditions necessitate a departure from traditional orthodontic approaches, as skeletal anchoring is often required because of these anomalies. Case Presentation: A patient with ED, characterized by hypodontia and malformed teeth, presented with insufficient natural teeth for anchorage. This challenge was addressed using a Maxillary Skeletal Expander (MSE) with miniscrews. Cone-beam computed tomography (CBCT) and cephalometric radiographs were used to assess bone density, which guided the creation of a customized hybrid device. A second patient with OI, a condition causing fragile bones, had malformed teeth and a high risk of fractures. Skeletal anchoring with MSE and miniscrews was chosen to avoid damaging brittle bones. The fragile nature of the patient’s bones required careful planning and close monitoring throughout the treatment process. Both patients were treated at the UOC of Pediatric Dentistry, Sapienza University of Rome, using MSE with miniscrews. Pre- and post-treatment imaging (CBCT and cephalometric radiographs) were used to evaluate bone quality and monitor progress. Skeletal anchoring successfully addressed the unique challenges in both cases, achieving outcomes comparable to those in unaffected patients. Discsussions: despite limited bone volume, MSE successfully achieved maxillary arch expansion and improved occlusion. Post-treatment radiographs showed successful maxillary expansion and alignment without complications. Conclusions: This case series highlighted the effectiveness of MSE with miniscrews in treating patients with rare diseases. It advances orthodontic management by offering reliable solutions for complex cases involving dental anomalies and compromised bone structures. Full article

Background: Patients with scoliosis often require multiple imaging modalities. The aim of this study was to find out whether primary diagnosis, including surgical planning, could be carried out entirely without computed tomography (CT) scans and whether follow-up could be replaced with alternative methods without the use of X-rays. In order to reduce the radiation exposure in the diagnosis and treatment of severe scoliosis, we expect to replace X-rays with radiation-free or less-intensive radiation examinations. This study protocol is interdisciplinary. Methods: A total of 50 male and female patients (children and adolescents, aged 7–18 years) treated for scoliosis will be analyzed. In addition to routine projection radiographs, preoperative CT, and/or X-ray stereoradiography (EOS) examinations, thin-slice 3D magnetic resonance imaging (MRI) sequences will be retrospectively reformatted during the preoperative MRI examination. A three-dimensional back scan (video-raster stereography) and an intraoral scan will also be obtained. The following questions should be answered at the end of the project: (1) Can MRI examination with additional thin-slice 3D reconstruction answer all relevant questions for preoperative planning instead of CT? (2) Are EOS or whole-spine X-ray examinations in combination with MRI data sufficient for the evaluation of the pedicles and spinal deformity? (3) Does the Cobb angle in the radiograph correlate with the calculations from the back scanner image and can follow-up checks be replaced? (4) Are there any correlations between dental anomalies and scoliosis? Conclusions: Until now, pediatric patients with scoliosis have been diagnosed, monitored, and treated with numerous independent specialist disciplines, such as pediatricians, orthopedic surgeons, neurosurgeons, and general practitioners with different radiological issues. The aim of this project is to reduce radiation and lower perioperative risks by creating a preoperative and follow-up-related standard protocol in close interdisciplinary and targeted cooperation between all the specialist disciplines involved. In line with the holistic examination approach, the associated accompanying diseases and developmental disorders such as dental and neuronal malformations will also be examined. On the one hand, CT-based questions could be replaced with the reconstruction of thin-slice MRI sequences. In addition, it may be possible to use the three-dimensional back scan as an intermediate diagnostic procedure instead of X-rays in the monitoring of severe scoliosis. Insofar as correlations or causalities between scoliosis and occlusal anomalies, early orthodontic intervention could positively benefit the duration of therapy at a later stage. Full article

The present study aimed to compare the prevalence of oral problems between individuals with rare genetic diseases that affect skeletal development and individuals without rare diseases. A cross-sectional study was conducted with 210 individuals between two and fifty-four years of age: 105 with rare genetic diseases (27 with mucopolysaccharidosis [MPS] and 78 with osteogenesis imperfecta [OI]) and 105 without rare diseases. The rare genetic disease group was recruited from hospital units that provide care for patients with MPS and OI in five states of Brazil, and the other group was recruited from the same location. The participants were examined with regards to malocclusion, dental anomalies, dental caries, and gingivitis. A questionnaire was administered addressing individual, sociodemographic, and behavioral characteristics as well as dental history. A descriptive analysis was performed, followed by unadjusted and adjusted binary logistic regression analyses. The mean age was 14.1 ± 12.2 years. Individuals with a rare disease were 12.9-fold more likely to have some type of oral problem (95% CI: 3.7–44.7) compared to the group without rare diseases. The prevalence of oral problems was higher among Brazilians with MPS and OI compared to normotypical individuals. Full article

Reconstructive and regenerative medicine are critical disciplines dedicated to restoring tissues and organs affected by injury, disease, or congenital anomalies. These fields rely on biomaterials like synthetic polymers, metals, ceramics, and biological tissues to create substitutes that integrate seamlessly with the body. Personalized implants and prosthetics, designed using advanced imaging and computer-assisted techniques, ensure optimal functionality and fit. Regenerative medicine focuses on stimulating natural healing mechanisms through cellular therapies and biomaterial scaffolds, enhancing tissue regeneration. In bone repair, addressing defects requires advanced solutions such as bone grafts, essential in medical and dental practices worldwide. Bovine bone scaffolds offer advantages over autogenous grafts, reducing surgical risks and costs. Incorporating antimicrobial properties into bone substitutes, particularly with metals like zinc, copper, and silver, shows promise in preventing infections associated with graft procedures. Silver nanoparticles exhibit robust antimicrobial efficacy, while zinc nanoparticles aid in infection prevention and support bone healing; 3D printing technology facilitates the production of customized implants and scaffolds, revolutionizing treatment approaches across medical disciplines. In this review, we discuss the primary biomaterials and their association with antimicrobial agents. Full article

The aim of this study is to compare the dental profiles of Brazilian patients with rare genetic skeletal disorders and normotypical patients. A cross-sectional study was carried out with 210 individuals aged between 2 and 54 years old [105 with rare diseases (Mucopolysaccharidosis/MPS n = 27 and Osteogenesis Imperfecta/OI n = 78) and 105 without rare diseases] and their parents/caregivers. The parents/caregivers answered a questionnaire about individual aspects of their child and the dental profile was identified from questions related to dental history and the presence/absence of dental problems. The patients’ oral cavity was also examined by three examiners for dental caries, malocclusion, gingivitis, and dental anomalies. The average age of individuals with a rare disease was 14.1 years (±12.2) and the median was 9.5 years. Participants who had already used the public health system (SUS) dental care services had a 2.24 times higher chance of belonging to the group with a rare disease (OR = 2.24; 95% CI: 1.07–4.89). Patients with rare diseases are 14.86 times more likely to have difficulty receiving dental treatment (OR = 14.86; 95% CI: 5.96–27.03) and 10.38 times more likely to have one or more dental problems (OR = 10.38; 95% CI: 1.95–35.17). Individuals with rare disorders have a greater history of difficulty in accessing dental treatment, using the SUS, and were diagnosed with more dental problems compared to normotypical individuals. Full article

Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS. Full article

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1–9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (RUNX2) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analyses of the RUNX2 gene were performed for Sanger sequencing. Bioinformatics tools were used to predict the function, stability, and structural changes of the mutated RUNX2 proteins. Three novel heterozygous mutations (c.651_652delTA; c.538_539delinsCA; c.662T>A) and a previously reported mutation (c.674G>A) were detected. In silico analysis showed that all mutations had functional, stability-related, and structural alterations in the RUNX2 protein. Our results show novel mutations that enrich the pool of RUNX2 gene mutations with CCD. Moreover, the proband 1 presented clinical data not previously reported that could represent an expanded phenotype of severe expression. Full article

Abnormalities of dental development and anatomy may suggest the presence of congenital or acquired anomalies. The detection of abnormalities, therefore, is an important skill for radiologists to achieve. Knowledge of dental embryology and an understanding of the radiologic appearances of teeth at various stages of maturation are required for the appreciation of abnormal dental development. While many tooth abnormalities are well-depicted on dedicated dental radiographs, the first encounter with a dental anomaly may be by a radiologist on a computed tomographic (CT) or magnetic resonance (MR) exam performed for other reasons. This article depicts normal dental anatomy and development, describing the appearance of the neonatal dentition on CT and MRI, the modalities most often encountered by clinical radiologists. The radiology and dental literature are reviewed, and key concepts are illustrated with supplemental cases from our institution. The value of knowledge of dental development is investigated using the analysis of consecutive MR brain examinations. Finally, the anatomical principles are applied to the diagnosis of odontogenic infection on CT. Through analysis of the literature and case data, the contrast of dental pathology with normal anatomy and development facilitates the detection and characterization of both congenital and acquired dental disease. Full article