Accuracy of dental age estimation methods in children with chromosomal syndromes: A systematic review and network meta-analysis.

Introduction: Epidermolysis Bullosa (EB) is a group of genetic disorders characterized by skin and mucosal fragility. Similarly, Amelogenesis Imperfecta (AI) is a genetic condition that affects the development of dental enamel, leading to structural anomalies. Specific gene mutations, such as those affecting COL17A1, are known to cause both conditions, notably in patients with Junctional EB. This study explores the clinical presentations of three patients diagnosed with both AI and EB, with two cases confirmed to have COL17A1 mutations, linking the genetic mutation to both enamel defects and EBs. Case Reports: The clinical findings from three patients are reported. Two of the cases were diagnosed with Junctional EB, with genetic testing confirming COL17A1 mutations, which correlated with the presentation of hypoplastic enamel and pitting. All patients exhibited gingivitis and oral mucosal fragility, which posed challenges in maintaining oral hygiene. Discussion: Maintaining oral hygiene in patients with EB is particularly challenging due to the fragility of their oral mucosa. These challenges are exacerbated by the low socioeconomic status of the patients, limiting access to proper oral care tools. The study explores oral management strategies, including the use of soft toothbrushes, sucralfate for ulcer management, and the importance of a multidisciplinary approach. Regular dental check-ups and early intervention are emphasized as essential for improving patient outcomes and quality of life. Conclusion: It is crucial for dental practitioners to identify signs of AI in EB patients and to ensure timely referrals and consultations. Furthermore, EB patients should be referred to dental professionals early to prevent oral complications. A multidisciplinary approach is vital for addressing the complex needs of these patients effectively.

To report two cases of Jalili syndrome (JS) harboring a novel mutation in the CNNM4 gene, review previously published studies on JS, and analyze factors potentially associated with visual acuity in patients with JS. Two JS patients from a non-consanguineous Chinese family underwent comprehensive ophthalmic evaluations. Next-generation sequencing (NGS) was performed to identify pathogenic variants, and Sanger sequencing was used for validation. A literature search was conducted to retrieve studies on JS published up to January 31, 2025; only studies with detailed records of visual acuity and mutation sites were included. Correlations between visual acuity and age, as well as between visual acuity and mutation domain, were analyzed. A total of 53 patients with detailed visual acuity and mutation site records from previous studies were included in the analysis. The mean logarithm of the minimum angle of resolution (logMAR) visual acuity was 1.15 (range: 0.69-2.00). Spearman's correlation analysis showed a positive correlation between visual acuity (logMAR) and age (rs =0.502, P<0.001). No association was found between logMAR visual acuity and mutation domain (P=0.748). The 6-year-old proband and her 3-year-old brother carried a novel homozygous missense variant c.949A>C (p.Ser317Arg) in CNNM4. Both patients presented with reduced visual acuity, pendular nystagmus, photophobia, night blindness, color vision loss, macular atrophy, and amelogenesis imperfecta. Optical coherence tomography (OCT) revealed atrophy of the outer retinal layers, and electroretinography (ERG) showed extinguished cone and rod responses. Fundus autofluorescence (FAF) and fundus fluorescein angiography (FFA) of the proband demonstrated bilateral retinal pigment epithelium (RPE) defects around the optic disc, vascular arcades, and macular region. At the latest follow-up (30mo), the proband's condition remained stable: best-corrected visual acuity was 2.00 logMAR (right eye) and 1.30 (left eye), with no changes in fundus appearance. The younger brother had a best-corrected visual acuity of 1.52 logMAR in both eyes at the latest follow-up, accompanied by severe bilateral macular atrophy and obvious dentin discoloration due to progressive enamel thinning. This study reports a novel homozygous missense variant c.949A>C (p.Ser317Arg) in CNNM4 in a Chinese JS family. Visual acuity in JS patients deteriorates with increasing age.

Classic approaches to prosthodontic treatment are evolving in the era of digital dentistry; where higher levels of control and precision may be efficiently achieved as they relate to the development of treatment outcomes that are important to patients. The application of tooth reduction guides, developed on the basis of a facially-driven digital smile design, assist clinicians in achieving highly refined outcomes, whilst minimising the biological cost of indirect dentistry.

Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a hereditary disorder that compromises the formation of dental enamel, affecting function, esthetics, and patients’ quality of life. This narrative review aimed to synthesize the main restorative and functional strategies described in the literature for managing AI. The literature search was conducted in the PubMed database, prioritizing publications from the past five years. The analyzed studies show that, in primary and mixed dentition, provisional treatment with stainless-steel crowns and direct restorations is essential to protect dental structure and preserve the vertical dimension of occlusion. In adolescents and young adults, direct and indirect restorative options, such as prefabricated veneers and ceramic crowns, provide good esthetic and functional outcomes. In more complex cases, full-mouth rehabilitation with an increased vertical dimension—especially using lithium disilicate crowns—demonstrates high predictability and durability. The literature also highlights the importance of a multidisciplinary approach and longitudinal planning. It is concluded that AI treatment must be individualized, considering age, phenotype severity, and functional demands, prioritizing structural preservation, esthetics, and full restoration of oral function.

Fractal analysis (FA) is an emerging quantitative method used to assess mandibular trabecular architecture in pediatric dentistry. While bone mineral density (BMD) measurements such as DEXA provide limited information about bone quality, fractal dimension (FD) analysis offers additional insight into microstructural complexity using routine dental radiographs. Current evidence shows that FD values reflect developmental, metabolic, and functional changes in children. Studies report preserved mandibular FD in Familial Mediterranean Fever and MIH, age-related increases in FD during normal growth, reduced FD in newly diagnosed celiac disease with improvement after a gluten-free diet, altered trabecular patterns in amelogenesis imperfecta, and region-specific FD increases in pediatric bruxism due to mechanical loading. Children with previous chemotherapy generally exhibit stable FD values. Overall, FA represents a non-invasive, accessible, and cost-effective adjunct for evaluating pediatric mandibular bone microarchitecture. Despite methodological limitations, standardized protocols and longitudinal research are needed to optimize its clinical utility.

352 - Orthodontic and Restorative Treatment in a Patient with Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a rare genetic condition characterised by defective enamel formation, with variable presentations. Diagnosis traditionally involves family history, clinical presentation, with genetic testing being increasingly integrated into clinical practice. Children and young people (CYP) with AI face clinical and psychosocial challenges over extended periods. Given the absence of specific guidelines for AI management in CYP, this project aimed to develop flowcharts to guide dental practitioners in managing the three primary AI phenotypes: hypoplastic, hypocalcified, and hypomaturation. The flowcharts focus on the permanent dentition and provide a structured, yet flexible treatment approach, addressing key clinical issues such as hypersensitivity management, and aesthetic restoration. The flowcharts were developed collaboratively by the UK Amelogenesis Imperfecta/Dentinogenesis Imperfecta National Clinical Excellence Network (AI/DI CEN). Expert opinion was sought over a series of meetings with specialists who treat children with amelogenesis imperfecta. Initial drafts of the flowcharts were discussed in two discussion forums until consensus was achieved. The flowcharts prioritise prevention, minimally invasive treatment, and shared decision-making, adapting interventions to phenotype type and severity as well as individual patient needs. This guidance is presented to assist dental professionals in delivering comprehensive, empathetic, and effective care for CYP with AI.

ObjectivesThis study aimed to assess the craniofacial characteristics of individuals with amelogenesis imperfecta (AI) through cephalometric data analysis.MethodsThe sample comprised 19 patients (11 female, 8 male), with a mean age of 14.00 ± 4.61 years, diagnosed with AI, and 40 age- and sex-matched healthy controls with normal occlusion and balanced profiles. Twenty-three cephalometric variables were used for quantitative assessment. Differences were compared between groups using Student’s t-test (p < 0.05).ResultsOpen-bite malocclusion was observed in 57.9% of individuals with AI. The vertical skeletal relationship showed increased anterior facial height, mandibular plane angle, and gonial angles compared to controls (p < 0.01). The skeletal sagittal relationship exhibited a Class II pattern with a retruded mandibular position (p < 0.01), while the maxillary and mandibular lengths showed no significant differences. Additionally, analysis across the four main AI subtypes revealed no significant differences in craniofacial morphology (p > 0.05).ConclusionsExcessive vertical growth appears to be the primary cause of the high prevalence of anterior open bite (AOB) in AI patients. These findings suggest that AI-related enamel defects may indirectly influence skeletal growth patterns, warranting early orthodontic monitoring and specialized care.

Tetralogy of Fallot (TOF) is the prevalent cyanotic congenital cardiac anomaly, accounting for 80% of all cases. Despite the incidence rate, the etiopathogenesis of TOF remains unknown. Amelogenesis imperfecta (AI) is a hereditary condition that impacts enamel development, resulting in morphological and functional tooth modifications. This report aims to present the case of a young patient with TOF and AI who received direct restorative treatment, emphasizing the medical and dental factors involved in enhancing oral health and dental esthetics. The patient has a history of cardiac procedures, including the implantation of a metallic pulmonary valve, along with moderate intellectual disability and a prior seizure episode. The intraoral examination indicated extensive gingivitis, inadequate oral hygiene, hypomineralized enamel with structural deterioration, and numerous plaque retention niches, resulting in pain during mastication and oral hygiene practices. Due to the high risk of infective endocarditis, infected foci were eliminated, and antibiotic prophylaxis was administered according to the American Heart Association guidelines. Restorative therapy was conducted utilizing direct composite resin veneers to restore dental aesthetics and functionality. Post-treatment, the patient had enhanced self-esteem, maintained dental hygiene, and achieved remission of gingivitis. This case demonstrates the significance of comprehensive dental care for patients with complex congenital heart conditions and enamel developmental disorders, stressing the necessity for preventive measures, effective periodontal management, and advanced restorative techniques to reduce the risks of systemic infections.

Classic approaches to prosthodontic treatment are evolving in the era of digital dentistry; where higher levels of control and precision may be efficiently achieved as they relate to the development of treatment outcomes that are important to patients. The application of tooth reduction guides, developed on the basis of a facially-driven digital smile design, assist clinicians in achieving highly refined outcomes, whilst minimising the biological cost of indirect dentistry.

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Background and Objectives: Facebook groups have become support spaces for people with rare diseases such as amelogenesis imperfecta (AI). While their potential for revealing patient needs is recognized, no systematic analysis has been conducted in France. This study aims to better understand the psychological and practical needs of French AI patients by analyzing interactions within a dedicated Facebook group. Methods: A semantic and thematic analysis was conducted on 881 texts (39,647 words) from the French Facebook group Amelogenesis Imperfecta. A custom tool, TEXTRA©, and IRaMuTeQ© software were used for analysis, including similarity analysis (lexical co-occurrences), Descending Hierarchical Classification (DHC), Correspondence analysis to reveal discourse structures. Results: Correspondence analysis revealed two main discourse trends: individual experiences (symptoms, treatment logistics, and medical engagement) and collective narratives (focused on awareness, mobilization, and institutional recognition). DHC identified four thematic classes: (a) difficulties accessing healthcare, (b) genetic framing and family implications, (c) dental symptoms and treatment experiences, and (d) community advocacy. These findings highlight how the group fosters emotional support, peer exchange, and empowerment. Conclusions: Online communities play a vital role in supporting patients with rare diseases. This study shows that the analysis of user-generated content can guide improvements in clinical practice, psychosocial support, and health policy.

Primary distal renal tubular acidosis (dRTA) is a rare inherited renal tubular disorder having a significant impact on growth and kidney function. Data on molecular genetics and long-term outcomes of primary dRTA, especially for newer genotypes, are limited. 63 probands with a clinical diagnosis of dRTA underwent molecular genetic testing, specifically including SLC4A1, ATP6V1B1, ATP6V0A4, WDR72, and FOXI1. Genotype-phenotype characteristics and long-term outcomes were studied in this observational cohort study. Diagnostic yield of genetic testing was 58.7%. Genotype positivity was associated with severe clinical and biochemical disease. SLC4A1 (38.5%) was the most common genotype, followed by WDR72 (13.5%) and ATP6V1B1 (11.5%). SLC4A1: p.Ala858Asp (32.7%) was the exclusive biallelic variant detected (likely founder variant in the region). Five (9.6%) had variants of unknown significance. Notable features at initial presentation were delayed diagnosis (median 17 months), frequent failure to thrive [44 (78.6%)], rickets [40 (71.4%)], and hypokalaemic paralysis [11 (19.6%)]. Mean [(standard deviation (SD)] follow-up duration was 14.8 (11.7) years. 30 (53.6%) were>18 years of age at last clinical visit. Long-term follow-up was characterised by poor final height [mean (SD score): -3.0 (2.2)], persistent bone deformities [19 (33.9%)], and decreased eGFR [mean (SD): 89.4 (26.1) ml/min/1.73m2]. The biallelic SLC4A1: p.Ala858Asp variant was characteristically associated with increased osmotic fragility of red blood cells, manifesting as haemolytic anaemia. ATP6V1B1, ATP6V0A4 and FOXI1 variants were associated with sensorineural hearing deficit. All probands with WDR72 variants manifested amelogenesis imperfecta. We report 13 novel genetic variants in primary dRTA and the fourth proband with a rare FOXI1 variant. Primary dRTA in Asian Indians is a genetically diverse disease, and is characterised by delayed diagnosis, severe growth failure, bone deformities, and decreased kidney function in the long term. Findings from this study highlight the regional diversity and expand genotype-phenotype correlations in primary dRTA.

Pathogenic gene identification and clinical management in an amelogenesis imperfecta family

BackgroundConsidering the difficulties presented by changed tooth growth patterns in amelogenesis imperfecta (AI), which might influence clinical decisions and treatment planning, the purpose of this study is to assess the accuracy of dental age assessment in Turkish children with AI in comparison to controls.MethodsA total of 416 Turkish children, ages 5 to 13.99, had their panoramic images examined in this retrospective study (104 with AI and 312 controls, 1:3 ratio). The London Atlas method and Cameriere’s European formula were used to estimate dental age. To improve accuracy, a new regression equation was created, and the outcomes were compared using statistical analysis.ResultsChronologic age and Cameriere’s European formula did not differ statistically significantly in either group (p = 0.226). However, there were statistically significant variations (p < 0.001) in the dental age estimates from the London Atlas approach, which were overstated by roughly 0.39–0.69 years in both groups. Using Cameriere’s formula, the new regression equation described 90.8% of the deviance in children with AI, while the London Atlas technique explained 83.0%.ConclusionsAccurate dental age estimation is crucial for children with AI, and the findings emphasize the superiority of Cameriere’s European formula over the London Atlas method, reinforcing the need for reliable techniques tailored to this unique population.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12903-025-06797-3.

Fractal analysis of mandibular bone structure in children with amelogenesis imperfecta.

ABSTRACTAmelogenesis imperfecta (AI) is a hereditary developmental disorder that affects the enamel of teeth. Patients with AI require frequent replacements of fillings, which causes considerable distress for those affected. In this series, three cases of severe AI were treated with a total of 68 ceramic crowns (IPS e.max Press) during early adolescence. After therapy, oral health‐related quality of life improved. No endodontic complications were recorded during a follow‐up period of 4 to 6 years. Early restorative treatment with ceramic crowns for children with severe AI appears to be an excellent treatment alternative.

Introduction: Genetic factors and environmental influences, such as frequent bottled water usage, contribute to dental conditions like amelogenesis imperfecta, oral cancer, and enamel erosion, yet patient awareness is low. This study evaluates a brief genetic risk education intervention to enhance knowledge, psychological outcomes, enamel wear, bottled water usage patterns, and preventive intentions. Methods: A six-month prospective cohort study was conducted at Government Dental College and Hospital, RIMS, Kadapa, India, from June 2021 to February 2022, involving 200 adult dental patients. Free, validated scales—Genetic Knowledge Scale, Perceived Risk of Genetic Disorders Scale, Hospital Anxiety and Depression Scale (HADS), Health Action Process Approach (HAPA) intention items, Basic Erosive Wear Examination (BEWE) Index, and a bottled water usage question—assessed outcomes at baseline, 3, and 6 months. A 20-minute educational session on hereditary dental diseases and environmental factors was delivered, with changes analyzed using repeated measures ANOVA. Results: Of 200 patients, 185 completed follow-ups (92.5% retention). Genetic knowledge increased from 50% to 78% (p&lt;0.001, Cohen’s d=1.1). Perceived risk rose from 3.1 to 4.4 (p&lt;0.001, Cohen’s d=0.8). BEWE scores indicated mild erosion in 60% at baseline, reducing to 45% (p=0.02). Frequent bottled water usage decreased from 55% to 38% (p=0.01). HADS anxiety scores increased transiently (6.4 to 7.0, p=0.04) but decreased to 5.9 by 6 months (p=0.03). Intentions for genetic counseling (22% to 62%), oral hygiene (48% to 73%), and family history sharing (32% to 66%) increased (p&lt;0.001).Conclusion: Brief genetic risk education enhances knowledge, improves enamel erosion and bottled water usage patterns, supports psychological adaptation, and promotes preventive behaviors, offering a scalable model for dental practice.