Search Results (25)

Noonan syndrome is a relatively common genetic syndrome with clinical and genetic heterogeneity. Besides the characteristic features such as short stature, typical facial features, congenital heart defects, skeletal and ocular anomalies, various orodental manifestations occur with variable frequency. High-arched palate, malocclusions, micrognathism, giant cell lesions, and anomalous lateral incisors are frequently observed features, whereas supernumerary teeth, hypodontia, macrodontia, enamel hypoplasia, severe dental caries, impacted teeth, delayed eruption, taurodontism and odontoma have occasionally been reported. Here, we present a family with three affected members displaying variable dental manifestations carrying the same PTPN11 c.178G>A pathogenic variant. A 14-year-old and a 12-year-old, both female patients, presented high-arched palates, delayed dental eruption and caries. Moreover, the younger sibling exhibited frequently observed manifestations such as malocclusion and gingivitis, and further rare features like open-bite, micrognathia, and crowded teeth were present. The mother of the patients had periodontitis and enamel problems. Monitoring the oral health of the patients with NS is important, as they are prone to severe dental caries, gingival and other orodental problems. Therefore, initiating early orodental examination is highly recommended for patients with suspicion or diagnosis of NS. Full article

Background/Objectives: Vascular Malformation—Osteolytic Subtype (VMOS) is an exceptionally rare autosomal recessive disorder caused by homozygous pathogenic variants in the ELMO2 gene, with fewer than ten genetically confirmed pediatric cases reported worldwide. This report presents the longitudinal dental management and clinical course of a child with VMOS, emphasizing the challenges of preventive and restorative care in such cases. Methods: A four-year-old child with a confirmed diagnosis of VMOS and a history of urgent bilateral coil embolization and surgical excision of mandibular aneurysmal bone cysts presented for dental care. The patient was followed for three years (2022–2025). Management focused on staged oral rehabilitation, preventive strategies, and restorative interventions adapted to changes across dentition stages. Results: At initial presentation, the child exhibited mandibular swelling, gingival hypertrophy, and a history of spontaneous intraoral bleeding. The postoperative course had been complicated by cerebral abscesses requiring prolonged intravenous antibiotics. During the primary dentition stage, full oral rehabilitation and strict preventive protocols were implemented to minimize caries and infection risk. In the mixed dentition period, the permanent incisors and molars erupted with enamel hypoplasia and developmental defects, necessitating composite restorations. Ectopic eruption and suboptimal oral hygiene, partly related to parental fear of bleeding, were also managed with reinforced preventive counseling. Conclusions: This case highlights the long-term dental implications of VMOS, underscoring the crucial role of the pediatric dentist in early preventive planning and individualized restorative management. Effective multidisciplinary coordination remains essential to preserve oral health and minimize complications in rare vascular syndromes with craniofacial involvement. Full article

Background/Objectives: Few studies have comprehensively examined dental anomalies in adolescents with genetic syndromes. This study aimed to assess their prevalence, types, and clinical patterns in a diverse sample of genetically confirmed cases. Methods: We conducted a retrospective cross-sectional study of 213 patients aged 12 to 18 years with various genetic syndromes, using clinical data originally collected between 2011 and 2014 at a tertiary center. Clinical examinations were complemented by radiographs when available. Anomalies were categorized by type, and a disproportionality analysis (Rate of Occurrence Ratio, ROR) quantified risk relative to syndrome representation. Results: Dental anomalies were present in 68% of adolescents. The most common findings were hypodontia, taurodontism (9%), and enamel hypoplasia (8%). Nearly half of the patients exhibited combined patterns, with hypodontia–taurodontism as the most characteristic combination (14%). Prevalence was particularly high in trisomy-based (80%) and osteogenesis-related (100%) syndromes. Down syndrome showed the strongest association (ROR 3.95; 95% CI: 2.15–7.25), while some conditions such as Turner, Ehlers-Danlos, and Tuberous sclerosis displayed significantly lower rates. Conclusions: Dental anomalies are both highly prevalent and patterned in adolescents with genetic syndromes. Their co-occurrence and specificity suggest that they may serve as useful diagnostic markers in syndromic evaluation. Full article

Background: Traumatic injuries to the alveolar process and primary teeth in early childhood can have long-term consequences on the development of permanent dentition and eruption pathways. Objective: This case report aims to illustrate the impact of early orofacial trauma on the eruption and development of permanent maxillary incisors and to emphasize the importance of timely interdisciplinary management. Case Presentation: An 8-year-old female patient presented to a pediatric dentistry clinic with delayed eruption of the maxillary anterior permanent teeth. In contrast, her monozygotic twin sister exhibited complete eruption of all permanent anterior teeth, raising parental concern regarding a possible pathological delay. Her medical history revealed orofacial trauma at the age of two, resulting in an alveolar process fracture, avulsion of the primary maxillary left central incisor (tooth 61), and luxation of the primary maxillary right central incisor (tooth 51). A clinical examination demonstrated sufficient arch space without signs of eruption and enamel defects on tooth 52. Radiographic evaluations, including panoramic imaging and cone beam computed tomography (CBCT), confirmed the presence of impacted permanent teeth with structural anomalies suggestive of trauma-related developmental disturbances. Results: The patient underwent a multidisciplinary treatment over a three-year period involving pediatric dentistry, oral surgery, and orthodontics. Management included surgical exposure of the impacted teeth followed by orthodontic traction to guide the eruption and treatment of enamel hypoplasia. Conclusions: This case highlights the long-term consequences of early traumatic dental injuries on permanent dentition development. It underscores the necessity of early diagnosis and a coordinated interdisciplinary approach to optimize outcomes and enhance the long-term oral health and quality of life of affected individuals. Full article

Background: Root canal treatment is an important element of dental treatment, and broken instruments are one cause of endodontic treatment failure. Broken instruments are rarely reported in primary teeth because of their inherently wider and relatively straighter root canals. We describe a case of a patient with a broken instrument in a primary tooth and reviewed the literature across three databases. Case presentation: A boy aged 7 years and 2 months was referred to our hospital because of pain persisting despite multiple dental treatments. Radiographic examination revealed a broken instrument in the maxillary right primary second molar. The patient experienced dental fear, so the treatment proceeded with the use of behavioral management and nitrous oxide, after which his pain disappeared. At the age of 9 years and 2 months, eruption of the successive permanent teeth was confirmed, and no pathological findings were observed except enamel hypoplasia. We undertook a literature review across three databases and found only two articles about broken instruments in primary teeth, neither of which described the eruption of the permanent teeth. All three cases involved primary molars. Conclusions: We removed a broken instrument from the root of a primary molar and performed root canal treatment, resulting in a good outcome for the primary molar until it was replaced with successive permanent teeth. Although rare, broken instruments in the roots of primary molars do occur, and care should be taken during root canal treatment of primary molars. Full article

Background: Chemotherapy (CMT) in children can disrupt dental development and calcification, causing long-term dental issues, but good dental care and habits can help improve quality of life. This case report examines permanent dental disturbances in a 7-year, 4-month-old girl undergoing CMT, explores the histology of microdontia, and outlines an oral treatment plan for CMT management. Methods: Clinical examination revealed microdontia and a groove crossing the cervical area (chronological hypoplasia), which were assessed using panoramic radiographs and histological analysis. The patient was monitored for five years, and microdontia was extracted for orthodontic reasons. A tailored treatment plan was implemented to maintain oral health during CMT. Results: Clinical and radiographic findings indicated tooth agenesis, rudimentary form, chronological hypoplasia, and microdontia. Histological analysis showed reduced odontoblast counts, abnormal dentinal tubules, thinner pre-dentin, and interglobular dentin (hypocalcification) surrounded by globular dentin (normal calcification). CMT-related microdontia caused inflammation with dilated blood vessels in the pulp. A high fever during CMT led to a groove in the enamel of all teeth, presenting as chronological hypoplasia. No new dental caries was observed over the follow-up. Conclusions: This report highlights long-term dental disturbances from CMT in permanent dentition and associated histopathological changes. It proposes an oral care protocol for managing these issues. Maintaining oral hygiene and preventing caries during the five-year follow-up reduced CMT side effects and improved the quality of the patient’s life. Full article

Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia. Although enzyme replacement therapy with asfotase alfa was approved in 2015, there are few reports about the dental outcomes of this treatment. Case presentation: A 1-year-old girl referred to our hospital had already lost two primary teeth at the time of her initial visit. She started enzyme replacement therapy 6 days after birth, and genetic analysis later confirmed the diagnosis of HPP. At the age of 4 years and 7 months, 11 primary teeth had been lost, and some of the exfoliated teeth showed inflammatory root resorption or root fracture. There was also a history of abscess formation in a non-carious primary molar. Conclusions: This report suggests that early enzyme replacement therapy may prevent traditional tooth loss in patients with HPP. It also highlights the new challenges posed for dental professionals in providing infection control in large pulp cavities and receding periodontal tissue. Full article

Background: Molar incisor hypomineralization (MIH) is a congenital qualitative disorder of the enamel tissue. During examinations, clinicians may observe a range of enamel opacities during examinations. The aim of this study was to assess the knowledge and awareness of dental students in Poland regarding MIH. Methods: This study was conducted among dental students who participated in scientific conferences for dental students in Poland. An electronic questionnaire was created for this purpose, accessible via a QR code. Results: The respondents consisted of dental students from the first to the fifth year of study, including 98 fourth-year students and 76 fifth-year students. The students represented 10 medical universities in Poland. Of the 341 respondents, 256 (75.07%) stated that they were familiar with the term MIH, but only 61 (17.89%) correctly indicated the diagnostic criteria of MIH. The most frequently indicated condition resembling MIH was enamel hypoplasia, with 158 (46.33%) respondents identifying it. Conclusions: Dental students at Polish medical universities have basic knowledge of MIH, but it is insufficient and needs to be improved during their educational training. Full article

Fahr’s syndrome is a rare neurodegenerative disorder with limited research on its oral manifestations. This study investigates the dental features and genetic background of Fahr’s syndrome through a pedigree analysis and a retrospective literature study. A clinical examination and whole-exome sequencing (WES) were conducted on a female patient with Fahr’s syndrome and pseudohypoparathyroidism, along with her family members. The patient presented with super-numerary teeth, tooth agenesis, enamel hypoplasia, and abnormal tooth eruption. The WES did not reveal any known pathogenic mutations related to pseudohypoparathyroidism or Fahr’s disease. However, genetic variations in KIF1A, FZD8, and PDGFA may underlie these dental abnormalities. Additionally, a retrospective analysis of 22 reported cases from PubMed and the Human Gene Mutation Database (1 January 1965–30 June 2024) was conducted with keywords such as “Fahr’s disease”, “Fahr’s syndrome”, “dental”, and “hypoparathyroidism”. The analysis showed that patients with Fahr’s syndrome, pseudohypoparathyroidism, and idiopathic hypoparathyroidism exhibited similar oral abnormalities, including tooth agenesis, root dysplasia, dental malformations, and abnormal tooth eruption. Variations in the incidence of tooth agenesis and dental malformation among these groups may be linked to differences in parathyroid hormone metabolism. These findings suggest oral abnormalities are the key local features of Fahr’s syndrome and related parathyroid disorders. Full article

Background: Down syndrome (DS) is a genetic condition characterized by an extra copy of chromosome 21, resulting in various physical and cognitive features. This study aimed to comprehensively analyze the dental and craniofacial morphology of individuals with DS using Cone Beam Computed Tomography (CBCT). Methods: Six individuals with DS, comprising five males and one female aged 17 to 35 years, underwent CBCT scanning. Radiographic assessments included dentition, occlusion, paranasal sinuses, airway, skull bones, and suture calcification. Linear and angular cephalometric measurements were performed, and airway analysis was conducted using Dolphin 3D imaging software v.11. Results: The study revealed prognathic maxilla in five patients, prognathic mandible in four, and bimaxillary protrusion in two. Dental findings included microdontia, enamel hypoplasia, and congenitally missing teeth, with maxillary and mandibular third molars most commonly absent. Sinus abnormalities, delayed suture closure, and cervical spine anomalies were also observed. Conclusion: These findings contribute to a deeper understanding of DS-related craniofacial characteristics and emphasize the importance of considering these morphometric features in clinical management strategies for individuals with DS. This study’s limited sample size underscores the significance of radiographic assessment in planning interventions such as cosmetic reconstructions, prosthetic rehabilitation, or orthodontic treatment for individuals with DS. Full article

Objective: Familial isolated hypoparathyroidism is a rare genetic disorder due to no or low production of the parathyroid hormone, disturbing calcium and phosphate regulation. The resulting hypocalcemia may lead to dental abnormalities, such as enamel hypoplasia. The aim of this paper was to describe the full-mouth rehabilitation of a 15-year-old girl with chronic hypocalcemia due to a rare congenital hypoparathyroidism. Clinical considerations: In this patient, in the young adult dentition, conservative care was preferred. Onlays or stainless-steel crowns were performed on the posterior teeth, and direct or indirect (overlays and veneerlays) were performed on the maxillary premolars, canines, and incisors, using a digital wax-up. The mandibular incisors were bleached. The treatment clearly improved the patient’s oral quality of life, with fewer sensitivities, better chewing, and aesthetic satisfaction. The difficulties were the regular monitoring and the limited compliance of the patient. Conclusion: Despite no clinical feedback in the literature, generalized hypomineralized/hypoplastic teeth due to hypoparathyroidism in a young patient can be treated as amelogenesis imperfecta (generalized enamel defects) with a conservative approach for medium-term satisfactory results. Highlights: This study provides new insights into the management of enamel hypoplasia caused by familial isolated hypoparathyroidism, helping to improve patient outcomes in similar cases. Full article

The survival rate for pediatric cancer has increased over the past few decades, short- and long-term complications have been detected and studied, and oral complications have emerged as an important topic of research. Here, we aimed to highlight the importance of oral manifestations that may only become apparent years or even decades after cancer treatment. This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis. We searched articles using PubMed via the MEDLINE, Web of Science, and LILACS databases until October 2023. Overall, 35 observational studies were included, and the results estimated a pooled prevalence of the following dental anomalies: discoloration, 53%; crown-root malformations and agenesis, 36%; enamel hypoplasia, 32%; root development alterations, 29%; unerupted teeth, 24%; microdontia, 16%; hypodontia, 13%; and macrodontia, 7%. Most childhood cancer survivors have at least one dental sequela. Childhood cancer survivors presented a higher risk of having dental alterations than control counterparts. Additional analyses reveal possible sex-based differences that should be explored in future studies. These results collectively highlight the importance of oral healthcare and the prevention of disease in childhood cancer survivors. Full article

Prenatal Vitamin D has been suggested to be critical for dental health in children, affecting outcomes including the prevalence of enamel defects and tooth erosion. This systematic review aimed to evaluate the potential impact of prenatal Vitamin D levels on these dental health outcomes. A total of seven studies, involving 6978 participants, were included after a comprehensive search of PubMed, Web of Science, and Scopus from 2013 to June 2023. The average age of mothers varied across studies, with Vitamin D levels or supplementation practices displaying significant variation among the study populations. The age of children at examination ranged from 3.6 to 6.6 years. The analysis demonstrated a diverse association between Vitamin D levels and dental outcomes, with enamel defects reported in 21.1% to 64% of the children and opacities ranging from 36% to 79.5% across studies. Maternal Vitamin D insufficiency was identified as a significant risk factor for enamel defects in one study (OR: 3.55), whereas high prenatal Vitamin D levels indicated a protective effect against Hypomineralized Second Primary Molars (OR: 0.84) and Molar Incisor Hypomineralization (OR: 0.95) in another. Conversely, low Vitamin D levels increased the risk of enamel hypoplasia (OR: 1.29) and dental decay. The maternal and child demographics varied greatly across the studies, and the assessment and prevalence of Vitamin D deficiency or insufficiency were heterogenous. This review illuminates the potential influence of prenatal Vitamin D on dental health in children, underscoring the importance of adequate Vitamin D levels during pregnancy. However, more robust research is required to establish the optimal Vitamin D intake during pregnancy to ensure healthy dental outcomes in children. Full article

Introduction: Epidermolysis bullosa (EB) is a genetically inherited disease characterized by recurrent bullae and erosions on the skin with numerous signs of dental caries and poor oral hygiene. The aim of this study was to investigate the general clinical and oral findings of patients with EB. Materials and Methods: In this prospective study, the clinical and oral findings and family history of 26 cases with EB were evaluated. The type of EB, gender, age, parental consanguinity, dental caries, oral findings, distribution of lesions and presence of associated anomalies, clinical and oral findings correlated with gender were recorded. Results: All 26 patients with EB had a history of consanguinity and siblings with EB to varying degrees. In our study, malnutrition, anemia and growth retardation, gastrointestinal system complications, hair thinning, hand and nail deformity, ocular problems and renal disease (in one case) were observed with variable frequencies. When the intraoral findings of the patients were investigated, extensive dental caries in all EB types, enamel hypoplasia in junctional EB (JEB) and the presence of tooth-root to be extracted in dystrophic EB (DEB), intraoral bullae and lesions, ankyloglossia, vestibular sulcus insufficiency, microstomia and maxillary atrophy were observed. Three cases had restorative treatment and one case had prosthetic rehabilitation. Conclusions: Oral involvement can be seen with varying frequencies depending on the type of EB and the severity of the disease. It may result from delayed oral and dental rehabilitation due to physical disabilities, limitations and more pressing medical problems. Microstomy, pain from mucosal lesions, and restricted access to the mouth can be caused by poor oral hygiene. Oral complications and caloric needs of individuals with EB should be determined, and individual prophylaxis should be applied to prevent caries formation and protect teeth. Full article

Eight newly identified pathological animal remains identified in two Middle Neolithic assemblages (ca 5330–4940 calBC) in northern and western Hungary were placed within the broader context of relevant prehistoric finds. The aim was to understand the underrepresented Middle Neolithic finds in light of the better-known cases from other prehistoric periods. The newly reported cases include arthritic and inflammatory lesions, as well as dental disorders, such as linear enamel hypoplasia, recognized for the first time in the Hungarian Neolithic. Identifications were based on bone macromorphology. When large samples are available, the frequencies of pathological bone specimens reflect the taxonomic composition. Along with the increasing number of cases, longevity related to exploitation for secondary products also became manifest. Therefore, the effects of assemblage size, disease classification and differences between authors (related to training and the time of publication) need to be considered before pathological lesions can be interpreted in terms of diachronic changes in animal husbandry. Full article