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This case report details the diagnosis and treatment of dentinogenesis imperfecta in a 6-year-old neutered male Labrador, presenting without concurrent osteogenesis imperfecta. Diagnostic modalities, including radiographs, CT imaging, and histopathological examination, are reviewed in conjunction with the latest literature on canine dentinogenesis imperfecta. This patient presented at a more advanced age than typically reported cases. The clinical history, as provided by referring veterinarians, documented fractured deciduous teeth with delayed exfoliation. By 10 months of age, the patient's permanent dentition exhibited a translucent appearance and structural anomalies. Upon presentation to Eastcott Referrals the patient was experiencing significant oral pain and exhibited generalised coronal wear with yellow/brown intrinsic discolouration. CT imaging revealed that all teeth had endodontic disease and associated apical periodontitis, with varied root canal widths indicating that teeth succumbed to endodontic disease at different time points. The treatment protocol involved staged full-mouth extractions, resulting in the complete resolution of clinical symptoms. This case underscores the importance of early diagnosis and intervention in managing dentinogenesis imperfecta in dogs. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by fragile bones and skeletal deformities. Individuals with OI may have dental abnormalities such as dentinogenesis imperfecta (DI) type I, malocclusions, and unerupted or missing teeth. This review comprehensively examines these dental abnormalities to assess their prevalence among the OI population and explore potential differences across different clinical types of OI and pathogenic variants. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, and Web of Science was conducted that included articles up to June 2024. Out of 672 articles screened, 34 were included. The included studies confirmed that dental abnormalities are prevalent in OI, with DI prevalence ranging from approximately 20 to 48%. Those with a more severe skeletal phenotype (OI type III/IV) exhibited more dental abnormalities than those with a milder skeletal phenotype (OI type I). Notably, OI type V individuals generally do not have DI, although a few isolated cases have been reported. The prevalence of occlusion types varied: Class I occlusion ranged from 14.8 to 50% and Class II malocclusion ranged from 0 to 37.5%, while Class III malocclusion from 4.1 to 84%. This differs from the general population, where Class III malocclusion is typically the least common. Open bites, cross-bites, and unerupted and missing teeth are also commonly reported, particularly in OI types III and IV. This review emphasizes the need for comprehensive dental examinations in OI due to the high prevalence of dental abnormalities. Additionally, the review draws attention to the lack of clear guidelines for diagnosing DI. [ABSTRACT FROM AUTHOR]

This is the second article in a three-part series that discusses joint orthodontic–restorative care for the adult patient. Part 2 considers the clinical presentations, challenges and strategies for developmental conditions presenting in adulthood, including the management of hypodontia, ectopic canine teeth and disorders of tooth structure. CPD/Clinical Relevance: The challenges and treatment strategies for providing orthodontic–restorative care for an adult patient presenting with developmental conditions and anomalies are outlined. [ABSTRACT FROM AUTHOR]

The article describes interdisciplinary dentistry (ID) and how it can be applied to better care for pediatric patients. Topics discussed include the interdisciplinary dental treatment process, ID treatment plan, and University of Washington interdisciplinary dentistry example interdisciplinary problem list template.

ABSTRACT Objective Materials and Methods Results Conclusions To explore the oral health‐related quality of life and its possible risk factors among adults with Osteogenesis Imperfecta using the Oral Health Impact Profile (OHIP)‐49 questionnaire. Secondary objectives were to investigate the impact of self‐reported Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters.A cross‐sectional questionnaire was distributed online to 417 Dutch adults with Osteogenesis Imperfecta at three national referral centers. Multivariate linear regression was performed to identify indicators for OHIP‐49 Scores. The effect of Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters was investigated using logistic regressions (p < 0.05).One hundred and fifty‐five questionnaires (37.2%) were suitable for analysis. Osteogenesis Imperfecta type III was significantly associated with higher OHIP‐49 scores as compared to type I. Symptoms of temporomandibular disorders, missing teeth or dentures also increased the OHIP‐49 scores significantly. Osteogenesis Imperfecta type IV and increasing age were associated with missing teeth. There was a 31.94 times (95% CI: 8.56–119.13) higher odds of tooth fracture with self‐reported Dentinogenesis Imperfecta.Adults with Osteogenesis Imperfecta type III report a lower oral health‐related quality of life compared to Osteogenesis Imperfecta type I adults. [ABSTRACT FROM AUTHOR]

Abstract Background Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders of varying severity characterized by bone fragility. The primary objective of this international multidisciplinary collaboration initiative was to reach a consensus for a standardized set of clinician and patient-reported outcome measures, as well as associated measuring instruments for dental care of individuals with OI, based on the aspects considered important by both experts and patients. This project is a subsequent to the Key4OI project initiated by the Care4BrittleBones foundation which aims to develop a standard set of outcome measures covering a large domain of factors affecting quality of life for people with OI. An international team of experts comprising orthodontists, pediatric dentists, oral and maxillofacial surgeons, and prosthetic dentists used a modified Delphi consensus process to select clinician-reported outcome measures (CROMs) and patient-reported outcome measures (PROMs) to evaluate oral health in individuals with OI. Important domains were identified through a literature review and by professional expertise (both CROMs and PROMs). In three focus groups of individuals with OI, important and relevant issues regarding dental health were identified. The input from the focus groups was used as the basis for the final set of outcome measures: the selected issues were attributed to relevant CROMs and, when appropriate, matched with validated questionnaires to establish the final PROMs which represented best the specific oral health-related concerns of individuals with OI. Results Consensus was reached on selected CROMs and PROMs for a standard set of outcome measures and measuring instruments of oral health in individuals with OI. Conclusions Our project resulted in consensus statements for standardization oral health PROMs and CROMs in individuals with OI. This outcome set can improve the standard of care by incorporating recommendations of professionals involved in dental care of individuals with OI. Further, it can facilitate research and international research co-operation. In addition, the significant contribution of the focus groups highlights the relevance of dental and oral health-related problems of individuals with OI.

Dental-skeletal-retinal-anomaly (DSRA) is a newly described collagenopathy in Cane Corso dogs. The causative mutation has been linked with splice defects within the melanoma inhibitory activity member 3 (MIA/3) gene that codes for the TANGO1 protein. This case series presents the first dental-related radiographic and histopathological abnormalities in two dogs with genetically confirmed DSRA. The clinical, radiological, and histological features are similar to those reported for MIA3/TANGO1 splice defects previously reported in humans and knockout mice. Common clinical features of these patients include generalized opalescent discoloration of the permanent dentition (intrinsic dyschromia), enamel defects, fractured teeth, vision loss, shortened physical stature, and orthopedic abnormalities that resulted in chronic, early-onset lameness. Intraoral radiography revealed delayed dentin deposition, evidence of endodontic disease, and dental hard tissue loss in both cases. Histopathologic findings for both cases were consistent with dentinogenesis imperfecta (DGI). DSRA exhibits autosomal recessive heritability and commercial diagnostic tests are now available. Clinicians should be aware of the etiopathogenesis, genetic inheritance and associated comorbidities in order to treat and counsel clients on the management of this condition. It is recommended that all breeding individuals be tested, and carriers be sterilized or omitted from the breeding population. This case study describes intraoral diagnoses, treatments, and follow-up of two DSRA-positive dogs. [ABSTRACT FROM AUTHOR]

Dentinogenesis imperfecta is a rare, autosomal dominant, hereditary disorder that occurs in humans and animals. In humans, known causative genetic mutations have been elucidated; however, veterinary literature on the topic is limited. This case report describes a 1-year-old female Labrador Retriever who presented for evaluation of generalized discoloration of the permanent dentition with historical discoloration of the deciduous dentition. Radiographic and histopathological findings will be discussed, as well as an in-depth review of the current human and veterinary literature pertaining to the pathogenesis and treatment options for dentinogenesis imperfecta. [ABSTRACT FROM AUTHOR]

Background: Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders of varying severity characterized by bone fragility. The primary objective of this international multidisciplinary collaboration initiative was to reach a consensus for a standardized set of clinician and patient-reported outcome measures, as well as associated measuring instruments for dental care of individuals with OI, based on the aspects considered important by both experts and patients. This project is a subsequent to the Key4OI project initiated by the Care4BrittleBones foundation which aims to develop a standard set of outcome measures covering a large domain of factors affecting quality of life for people with OI. An international team of experts comprising orthodontists, pediatric dentists, oral and maxillofacial surgeons, and prosthetic dentists used a modified Delphi consensus process to select clinician-reported outcome measures (CROMs) and patient-reported outcome measures (PROMs) to evaluate oral health in individuals with OI. Important domains were identified through a literature review and by professional expertise (both CROMs and PROMs). In three focus groups of individuals with OI, important and relevant issues regarding dental health were identified. The input from the focus groups was used as the basis for the final set of outcome measures: the selected issues were attributed to relevant CROMs and, when appropriate, matched with validated questionnaires to establish the final PROMs which represented best the specific oral health-related concerns of individuals with OI. Results: Consensus was reached on selected CROMs and PROMs for a standard set of outcome measures and measuring instruments of oral health in individuals with OI. Conclusions: Our project resulted in consensus statements for standardization oral health PROMs and CROMs in individuals with OI. This outcome set can improve the standard of care by incorporating recommendations of professionals involved in dental care of individuals with OI. Further, it can facilitate research and international research co-operation. In addition, the significant contribution of the focus groups highlights the relevance of dental and oral health-related problems of individuals with OI. [ABSTRACT FROM AUTHOR]

This case report details the diagnosis and treatment of dentinogenesis imperfecta in a 6-year-old neutered male Labrador, presenting without concurrent osteogenesis imperfecta. Diagnostic modalities, including radiographs, CT imaging, and histopathological examination, are reviewed in conjunction with the latest literature on canine dentinogenesis imperfecta. This patient presented at a more advanced age than typically reported cases. The clinical history, as provided by referring veterinarians, documented fractured deciduous teeth with delayed exfoliation. By 10 months of age, the patient’s permanent dentition exhibited a translucent appearance and structural anomalies. Upon presentation to Eastcott Referrals the patient was experiencing significant oral pain and exhibited generalised coronal wear with yellow/brown intrinsic discolouration. CT imaging revealed that all teeth had endodontic disease and associated apical periodontitis, with varied root canal widths indicating that teeth succumbed to endodontic disease at different time points. The treatment protocol involved staged full-mouth extractions, resulting in the complete resolution of clinical symptoms. This case underscores the importance of early diagnosis and intervention in managing dentinogenesis imperfecta in dogs.

Orthodontic treatment for patients with dentinogenesis imperfecta (DGI) can be risky because of the fragility of their dental hard tissue. Although the Invisalign (Align Technology) clear aligner system should be a suitable orthodontic appliance for patients with DGI, to the authors' knowledge, there has been no related research. A 28-year-old woman with DGI sought treatment with a 1 mm open bite, edge-to-edge occlusion of the central incisors, and a bilateral Class III cusp-to-cusp molar relationship. Invisalign was applied for her treatment, and after 3 and one-half years of orthodontic therapy, a normal overjet and overbite were achieved, accompanied by retraction of the lower lip as well as a bilateral Class I molar relationship. In addition, there was no iatrogenic injury to the patient's teeth. The Invisalign system may be a suitable orthodontic appliance for patients with DGI because clear aligners lessen the tensile stress to the teeth, decrease the number and area of bonds to the teeth, and offer protective effects through a full wrap of plastic that covers the crowns of the teeth. [ABSTRACT FROM AUTHOR]

Objective: Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families. Materials and methods: The patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used. Results: WES revealed two new nonsense variants in DSPP gene, c.288T > A (p.Tyr96Ter) and c.255G > A (p.Trp85Ter). Segregation analysis by Sanger sequencing confirmed the presence of the first variant in all affected members of Family 1 while the second variant was confirmed to be de novo in the patient of Family 2. Conclusions and clinical relevance: Our study extends the number of DSPP pathogenic variants and strengthens the fact that DSPP is the most common DI causative gene irrespective of patients’ ethnicity. In addition, we provide insights on genetic counseling issues in patients with inherited DSPP variants taking into consideration the variable religion, culture and laws in our society. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfecta (OI) is a heterogeneous spectrum of hereditary genetic disorders that cause bone fragility, through various quantitative and qualitative defects of type 1 collagen, a triple helix composed of two α1 and one α2 chains encoded by COL1A1 and COL1A2 , respectively. The main extra–skeletal manifestations of OI include blue sclerae, opalescent teeth, and hearing impairment. Moreover, multiple genes involved in osteoblast maturation and type 1 collagen biosynthesis are now known to cause recessive forms of OI. In this study a multiplex consanguineous family of two affected males with OI was recruited for genetic screening. To determine the causative, pathogenic variant(s), genomic DNA from two affected family members were analyzed using whole exome sequencing, autozygosity mapping, and then validated with Sanger sequencing. The analysis led to the mapping of a homozygous variant previously reported in SP7/OSX, a gene encoding for Osterix, a transcription factor that activates a repertoire of genes involved in osteoblast and osteocyte differentiation and function. The identified variant (c.946C > T; p.Arg316Cys) in exon 2 of SP7/OSX results in a pathogenic amino acid change in two affected male siblings and develops OI, dentinogenesis imperfecta, and craniofacial anomaly. On the basis of the findings of the present study, SP7/OSX :c. 946C > T is a rare homozygous variant causing OI with extra–skeletal features in inbred Arab populations. [ABSTRACT FROM AUTHOR]

Background: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines. Method: The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI. Purpose: The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI. [ABSTRACT FROM AUTHOR]

Introduction: The maxillary sinuses are located in the middle of the nasal cavity and are thought to have the greatest air gaps. Cone-beam computed tomography (CBCT) imaging was used to characterize the radiographic connection between the apices of posterior maxillary teeth and the floor of the maxillary sinus. This study aims to evaluate the degree of apical periodontitis and the sinus mucosal thickness and find the associations between the patient's age and gender and the degree of apical periodontitis with sinus mucosal thickness. Materials and Methods: A retrospective analysis of 364 individuals with maxillary sinuses which appears clearly within limited-field CBCT images was performed. It was also categorized and noted how the maxillary sinus floor related to the root tips and periapical lesions. In addition, the patient's age gender, side, and level of apical periodontitis in relation to maxillary sinus mucosal (MSM) thickness were evaluated. Results: The MSM class and periapical index (PAI) were statistically significantly correlated (P 0.001). In comparison to respondents with PAI score I, respondents with PAI score V had 47.89 times the odds of having a higher MSM class (odds ratio [OR] =47.89, P = 0.05). Age and MSM thickening were not substantially correlated (P = 0.298), whereas gender and MSM thickening were strongly correlated (OR = 1.56, P = 0.05). Conclusions: The result of this study showed a clear association between the periapical lesions and MSM thickening. [ABSTRACT FROM AUTHOR]

Introduction: Dentinogenesis imperfecta (DI) is a genetic disease that affects the dentin of the teeth. The autosomal dominantly inherited disease affects only the tissues of connective tissue (mesodermal) origin of the teeth, so there are no changes in the enamel and the periodontium. Due to poor quality dentin, the teeth become discolored and the enamel easily peels off. In the dental treatment of patients with DI, the focus should be on indirect restorations as soon as possible, so the dentist must diagnose the condition as early as possible so that the possibility of early intervention is realized, as well as balancing the decision for early intervention with the long-term survival of the restorations. Case report: A 15-year-old young male patient came to the Department of Paediatric Dentistry and Orthodontics of Semmelweis University, to have the veneers on his lower incisors replaced. He also wanted a comprehensive aesthetic rehabilitation. The anamnesis revealed that the patient’s father also suffers from DI, and the patient lives with hemophilia A. Based and the literature evidence and recommendations, we planned indirect restorations. The decreased occlusal vertical dimension was increased; in the first phase to adapt the neuromuscular system to the increased vertical dimension, polymethyl-methacrylate (PMMA) restorations were prepared. After the patient both aesthetically and functionally having been satisfied with the temporary restorations, the final restoration were planned as a monolithic zirconia crowns and splints for the upper and lower arches. For the cementation resin modified glass ionomer was used to avoid the adhesive technique, which is not recommended in such cases. The prosthodontic phase was preceded by professional oral hygiene treatment, instruction, and motivation. Summary: For patients with DI, the key is the early diagnosis and its treatment is essential. Scientific evidence indicates that indirect restorations should be preferred over direct ones in patients with DI. Close cooperation with the hematologist is necessary during the treatment of the patient with hemophilia A.

Objective: Unusual clinical course Background: Osteogenesis imperfecta (OI) is a rare genetic disease that results from mutations in type 1 collagen (COL1) or its interacting proteins. Such mutations lead to defects in bone structure, causing brittle bones, short stature, hearing loss, and dental problems, among others. The current classification system arranges OI into types according to a clinical phenotype that includes the severity of the disease and a combination of specific features, such as blue sclerae and dental abnormalities. Case Report: Here, we present a clinical report of a 3-year-old boy diagnosed with OI in utero who has been followed by our pediatric clinic postnatally. The patient was born with multiple bone fractures, a small head circumference, and blue sclerae and later had a concomitant diagnosis of dentinogenesis imperfecta (DI). Soon after birth, the patient was started on bisphosphonate and calcium/vitamin D treatment. The patient's OI type was inconclusive due to the dramatic difference between perinatal and postnatal phenotypes, the presence of blue sclerae, and the additional diagnosis of DI. The patient experienced only 1 new bone fracture postnatally, had normal anthropometric measurements except for short stature, and was healthy. Conclusions: This clinical case is unique owing to the dramatic perinatal and mild postnatal OI phenotypes. This and the unique combination of postnatal features demonstrate that classical OI typing could be inconclusive in atypical disease presentation. This case may demonstrate a new classification possibility outside the current OI nomenclature. However, the potential beneficial role of pharmacological treatment in the clinical outcome of OI cannot be excluded. [ABSTRACT FROM AUTHOR]

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The aim is to quantitatively analyze the diameter and tubular density and semi-quantitatively analyze the elemental composition (Calcium and Phosphorus) in the dentin of primary teeth of children with Osteogenesis Imperfecta (OI) in comparison with a control group. Material and methods: A microstructural (in vitro) analysis of primary teeth of children with OI was performed with SEM and EDS. The variables measured were the tubule count (tubule/mm2) and diameter (µm) at 2000 times magnification at four points of the dentin of different depths. A semiquantitative analysis of the elemental composition of the dentin was performed with EDS of Calcium and Phosphorus (cps). Descriptive and inferential analysis (Fisher's exact test, the Mann–Whitney U test, the Kruskal–Wallis test, the Bonferroni post hoc test, the ANOVA test of repeated measures, a test of inter- and intra-subject effects, and the Geisser–Greenhouse test) were carried out. Data were analyzed with a 95% confidence level (p-value < 0.05). Results: A total of 25 deciduous teeth from 17 patients with OI and 30 teeth from healthy children were studied. There were differences in the count and tubular diameter for the control group with OI; in addition, the behavior curve changed when the systemic disease was severe. While there were no differences in the amount of dentinal Calcium, the OI tooth showed a significantly lower amount of Phosphorus (p < 0.05), except in the pulpal dentin (p > 0.05). Conclusion: The alterations of the dentinal tubules (density and diameter) were more pronounced in the most severe phenotypes of systemic disease. The amount of Phosphorus was decreased in the dentin of the primary teeth of children with OI compared to the control group. [ABSTRACT FROM AUTHOR]

Children affected by dentinogenesis imperfecta (DI) require restorative techniques or prosthodontic management to minimize the functional and psychosocial impacts of the condition. In cases of excessive wear of the deciduous dentition and moderate cooperation from the child, removable complete overdenture prostheses are the most suitable treatment option. However, limited restorative space is a technical challenge for the placement of such prostheses. Advances in digital technologies can help assist in the fabrication of monolithic prostheses with reduced thickness. The present clinical report describes the management of a moderately cooperative 7-year-old patient suffering from DI with severe tooth wear, reduced restorative space, and a high smile line. The design and fabrication of complete overdentures were performed using a digital workflow. This innovative monochromatic monolithic approach combined with the use of gingiva-shade composite resin respected the available restorative space while obtaining a natural esthetic appearance. Such a strategy requires regular denture replacement according to the child's growth and loss of deciduous dentition. An additional aim is to obtain the cooperation needed for a future global fixed rehabilitation over time. [ABSTRACT FROM AUTHOR]

Shell Teeth are a type of radiographic appearance of teeth seen in Dentinogenesis Imperfecta type II (DGI II). Radiographically, they are characterised by an enlarged pulp chamber enclosed by a thin layer of dentin. The clinical appearance of these teeth ranges from yellow to bluish-grey in colour. The histological features of shell teeth have not been updated in the literature, unlike clinical and radiographic appearance. These features are not available in the literature compared to other dental anomalies. Here, the authors present a case of an 18-year-old female who came with the complaint of poor aesthetic dentition. The dentition aligned with the clinical and radiographic features of shell teeth. Histopathological features of the present case included an irregular arrangement of the dentinal matrix and a few cellular inclusions. The final diagnosis was given as DGI type II. This developmental disorder requires prevention and early intervention of its dental implications, such as dental caries and attrition. The treatment usually requires a wellplanned multidisciplinary protocol involving endodontic and prosthodontic approaches. Histopathological features of shell teeth are required to aid in the identification of the precise pathogenesis and genetic mechanism behind this structural disorder of dentin. It also helps in the modification of certain treatment procedures to accommodate the structural abnormality. The case report aimed to bridge the literature gap on the histopathological features of shell teeth. [ABSTRACT FROM AUTHOR]

Objective: This review aimed to summarize recent progress on syndromic dentin defects, promoting a better understanding of systemic diseases with dentin malformations, the molecules involved, and related mechanisms. Subjects and Methods: References on genetic diseases with dentin malformations were obtained from various sources, including PubMed, OMIM, NCBI, and other websites. The clinical phenotypes and genetic backgrounds of these diseases were then summarized, analyzed, and compared. Results: Over 10 systemic diseases, including osteogenesis imperfecta, hypophosphatemic rickets, vitamin D‐dependent rickets, familial tumoral calcinosis, Ehlers‐Danlos syndrome, Schimke immuno‐osseous dysplasia, hypophosphatasia, Elsahy‐Waters syndrome, Singleton‐Merten syndrome, odontochondrodysplasia, and microcephalic osteodysplastic primordial dwarfism type II were examined. Most of these are bone disorders, and their pathogenic genes may regulate both dentin and bone development, involving extracellular matrix, cell differentiation, and metabolism of calcium, phosphorus, and vitamin D. The phenotypes of these syndromic dentin defects various with the involved genes, part of them are similar to dentinogenesis imperfecta or dentin dysplasia, while others only present one or two types of dentin abnormalities such as discoloration, irregular enlarged or obliterated pulp and canal, or root malformation. Conclusion: Some specific dentin defects associated with systemic diseases may serve as important phenotypes for dentists to diagnose. Furthermore, mechanistic studies on syndromic dentin defects may provide valuable insights into isolated dentin defects and general dentin development or mineralization. [ABSTRACT FROM AUTHOR]

The present study aims to investigate the mutation in a Chinese family with dentin dysplasia type II (DD‐II) and to summarize mutation hotspots, clinical manifestations, and disease management strategies. Phenotype analysis, clinical intervention, mutation screening, and cosegregation analysis within the enrolled family were performed. A summary of the reported mutations in the dentin phosphoprotein (DPP) region of dentin sialophosphoprotein (DSPP) was analyzed. Pathogenicity prediction analysis of the physical properties and function of DSPP variants was performed by bioinformatic processing. Clinical management strategies are discussed. A novel pathogenic mutation (c.2035delA) in the DPP region of DSPP was identified, which was cosegregated in the family. The immature permanent teeth of patients with DD‐II presented with X‐shaped root canal phenotypes. Most of the identified mutations for DD‐II were clustered in the DPP region between nucleotides 1686–2134. Points of differential diagnosis, clinical interventions, and management strategies are proposed. This study revealed a novel DSPP frameshift mutation and presented new clinical features of DD‐II. The locus involving nucleotides 1686–2134 of DSPP may represent a mutational hotspot for the disease. Appropriate management of DD‐II at different stages is important to avoid the development of secondary dental lesions. [ABSTRACT FROM AUTHOR]

Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. ODCD is inherited in an autosomal recessive fashion with an unknown frequency caused by mutations of the thyroid hormone receptor interactor 11 gene (TRIP11; OMIM *604505). The TRIP11 gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), which is an indispensable protein for the function of the Golgi apparatus. Mutations in TRIP11 also cause achondrogenesis type 1A (ACG1A). Null mutations of TRIP11 lead to ACG1A, also known as a lethal skeletal dysplasia, while hypomorphic mutations cause ODCD. Here we report a male child diagnosed as ODCD with a novel compound heterozygous mutation who presented with skeletal changes, short stature, dentinogenesis imperfecta, and facial dysmorphism resembling achondroplasia and hypochondroplasia.

Background: The dentinogenesis differentiation of dental pulp stem cells (DPSCs) is controlled by the spatio-temporal expression of differentiation related genes. RNA N6-methyladenosine (m6A) methylation, one of the most abundant internal epigenetic modification in mRNA, influences various events in RNA processing, stem cell pluripotency and differentiation. Methyltransferase like 3 (METTL3), one of the essential regulators, involves in the process of dentin formation and root development, while mechanism of METTL3-mediated RNA m6A methylation in DPSC dentinogenesis differentiation is still unclear. Methods: Immunofluorescence staining and MeRIP-seq were performed to establish m6A modification profile in dentinogenesis differentiation. Lentivirus were used to knockdown or overexpression of METTL3. The dentinogenesis differentiation was analyzed by alkaline phosphatase, alizarin red staining and real time RT-PCR. RNA stability assay was determined by actinomycin D. A direct pulp capping model was established with rat molars to reveal the role of METTL3 in tertiary dentin formation. Results: Dynamic characteristics of RNA m6A methylation in dentinogenesis differentiation were demonstrated by MeRIP-seq. Methyltransferases (METTL3 and METTL14) and demethylases (FTO and ALKBH5) were gradually up-regulated during dentinogenesis process. Methyltransferase METTL3 was selected for further study. Knockdown of METTL3 impaired the DPSCs dentinogenesis differentiation, and overexpression of METTL3 promoted the differentiation. METTL3-mediated m6A regulated the mRNA stabiliy of GDF6 and STC1. Furthermore, overexpression of METTL3 promoted tertiary dentin formation in direct pulp capping model. Conclusion: The modification of m6A showed dynamic characteristics during DPSCs dentinogenesis differentiation. METTL3-mediated m6A regulated in dentinogenesis differentiation through affecting the mRNA stability of GDF6 and STC1. METTL3 overexpression promoted tertiary dentin formation in vitro, suggesting its promising application in vital pulp therapy (VPT). [ABSTRACT FROM AUTHOR]

Dental enamel defects pose significant challenges to oral health and aesthetics, affecting individuals of all ages. Among these defects, Amelogenesis Imperfecta (AI) and Dentinogenesis Imperfecta (DI) stand out as rare genetic disorders impacting enamel and dentin formation, respectively. AI manifests in various forms, leading to discolored, pitted, or malformed enamel, while DI primarily affects dentin, resulting in weakened tooth structure and increased susceptibility to fractures. Understanding the causes, symptoms, and treatment options for AI and DI is crucial for effective management. This abstract provides an overview of these conditions, highlighting genetic and environmental factors contributing to their development. Key diagnostic methods, including dental examination and genetic testing, are discussed, along with treatment strategies such as bonding, crowns, and orthodontic interventions. By addressing these defects comprehensively, individuals with AI and DI can achieve improved dental health and quality of life. [ABSTRACT FROM AUTHOR]

The aim is to quantitatively analyze the diameter and tubular density and semi-quantitatively analyze the elemental composition (Calcium and Phosphorus) in the dentin of primary teeth of children with Osteogenesis Imperfecta (OI) in comparison with a control group. Material and methods: A microstructural (in vitro) analysis of primary teeth of children with OI was performed with SEM and EDS. The variables measured were the tubule count (tubule/mm2) and diameter (µm) at 2000 times magnification at four points of the dentin of different depths. A semiquantitative analysis of the elemental composition of the dentin was performed with EDS of Calcium and Phosphorus (cps). Descriptive and inferential analysis (Fisher’s exact test, the Mann–Whitney U test, the Kruskal–Wallis test, the Bonferroni post hoc test, the ANOVA test of repeated measures, a test of inter- and intra-subject effects, and the Geisser–Greenhouse test) were carried out. Data were analyzed with a 95% confidence level (p-value < 0.05). Results: A total of 25 deciduous teeth from 17 patients with OI and 30 teeth from healthy children were studied. There were differences in the count and tubular diameter for the control group with OI; in addition, the behavior curve changed when the systemic disease was severe. While there were no differences in the amount of dentinal Calcium, the OI tooth showed a significantly lower amount of Phosphorus (p < 0.05), except in the pulpal dentin (p > 0.05). Conclusion: The alterations of the dentinal tubules (density and diameter) were more pronounced in the most severe phenotypes of systemic disease. The amount of Phosphorus was decreased in the dentin of the primary teeth of children with OI compared to the control group.

Osteogenesis imperfecta (OI) is a rare congenital condition, marked by fragile bones, skeletal deformities and additional extra-skeletal symptoms. Depending upon the degree of seriousness, affected people can either carry on with a mostly unrestricted, independent life, or their mobility is severely affected, making them dependent on others for support. Despite that, there is no effect on intellectual capacities. The medical and surgical treatments of OI are directed towards improving the patient's quality of life, mobility and functional independence. Because of the close biochemical relationship that exists between collagen and dentine, the teeth are affected in certain patients, leading to dentinogenesis imperfecta (DI) which is described by the appearance of opalescent teeth. To enable preventive intervention and effective dental treatment, it is essential that the correct diagnosis of DI is done at an early stage.

Purpose: To demonstrate the field of application and prospects of individually modeled indirect composite restorations for the treatment of children and adolescents based on a case of dentinogenesis imperfecta. Dental malformations can affect single or multiple teeth. In most cases, direct composite fillings can be placed. However, in severe cases, these restorations may be more challenging and error-prone, especially when occlusal adjustments are necessary. Since composite materials do not require a specific lamination strength and are easy to repair, they can be applied using the indirect technique, enabling conservation of more sound hard tissue than is possible when conventional restorations are used. Patient and Methods: A young patient with dentinogenesis imperfecta type II underwent interdisciplinary full-mouth rehabilitation due to massive tooth wear and loss of vertical occlusion. First, a check bite was taken, and vertical occlusion was increased using overdentures. Six months later, a construction bite was taken over the existing overdentures (focusing on the sagittal dimension) to move the mandibular position more towards the anterior, correcting the skeletal Class II malocclusion. This resulted in a Class I intercuspidation with harmonization of the facial proportions. After a further six months, all teeth were restored using individually modeled indirect composite restorations, which preserved most of the sound hard tissue and restored esthetics and function. Conclusion: Indirect composite restorations can be a valuable tool for improving occlusion, esthetics and function in the treatment of children and adolescents. [ABSTRACT FROM AUTHOR]

Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. ODCD is inherited in an autosomal recessive fashion with an unknown frequency caused by mutations of the thyroid hormone receptor interactor 11 gene (TRIP11; OMIM *604505). The TRIP11 gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), which is an indispensable protein for the function of the Golgi apparatus. Mutations in TRIP11 also cause achondrogenesis type 1A (ACG1A). Null mutations of TRIP11 lead to ACG1A, also known as a lethal skeletal dysplasia, while hypomorphic mutations cause ODCD. Here we report a male child diagnosed as ODCD with a novel compound heterozygous mutation who presented with skeletal changes, short stature, dentinogenesis imperfecta, and facial dysmorphism resembling achondroplasia and hypochondroplasia. [ABSTRACT FROM AUTHOR]

This review describes the clinical, radiographic and histologic characteristics of dentinogenesis imperfecta diagnosed in two unrelated young dogs without evidence of concurrent osteogenesis imperfecta. The dentition was noted to have generalized coronal discoloration ranging from grey-blue to golden brown. Clinical pulp exposure, coronal wear and fractures were observed as was radiographic evidence of endodontic disease, thin dentin walls or dystrophic obliteration of the pulp canal. The enamel was severely affected by attrition and abrasion despite histologically normal areas; loss was most likely due to poor adherence or support by the underlying abnormal dentin. Histologically, permanent and deciduous teeth examined showed thin, amorphous dentin without organized dentin tubules and odontoblasts had dysplastic cell morphology. Primary dentin disorders, including dentinogenesis imperfecta and dentin dysplasia, have been extensively studied and genetically characterized in humans but infrequently reported in dogs. Treatment in human patients is aimed at early recognition and multi-disciplinary intervention to restore and maintain normal occlusion, aesthetics, mastication and speech. Treatment in both humans and canine patients is discussed as is the documented genetic heritability of primary dentin disorders in humans. [ABSTRACT FROM AUTHOR]

Type II dentinogenesis imperfecta is an autosomal dominant condition that affects dentin which increases the complexity of the predictability of restorative treatment. Computer‐aided design and computer‐aided manufacturing (CAD‐CAM) technologies permit the creation of highly accurate devices and dental prostheses that simplify the planning and execution of advanced implant surgery and full‐mouth rehabilitation. This clinical report presents the interdisciplinary management of a 20‐year‐old male with dentinogenesis imperfecta type II. In this article, a combination of analog and CAD‐CAM technologies were used to fabricate devices that aided planning, assisted intermaxillary fixation and implant placement, served as interim prostheses, and permitted the accurate establishment of esthetics and occlusion of the definitive full‐arch prostheses. [ABSTRACT FROM AUTHOR]

Objective: To explore the oral health-related quality of life and its possible risk factors among adults with Osteogenesis Imperfecta using the Oral Health Impact Profile (OHIP)-49 questionnaire. Secondary objectives were to investigate the impact of self-reported Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters., Materials and Methods: A cross-sectional questionnaire was distributed online to 417 Dutch adults with Osteogenesis Imperfecta at three national referral centers. Multivariate linear regression was performed to identify indicators for OHIP-49 Scores. The effect of Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters was investigated using logistic regressions (p < 0.05)., Results: One hundred and fifty-five questionnaires (37.2%) were suitable for analysis. Osteogenesis Imperfecta type III was significantly associated with higher OHIP-49 scores as compared to type I. Symptoms of temporomandibular disorders, missing teeth or dentures also increased the OHIP-49 scores significantly. Osteogenesis Imperfecta type IV and increasing age were associated with missing teeth. There was a 31.94 times (95% CI: 8.56-119.13) higher odds of tooth fracture with self-reported Dentinogenesis Imperfecta., Conclusions: Adults with Osteogenesis Imperfecta type III report a lower oral health-related quality of life compared to Osteogenesis Imperfecta type I adults., (© 2024 The Author(s). Oral Diseases published by John Wiley & Sons Ltd.)

ackground: Dentinogenesis imperfecta (DI) is an autosomal dominant (AD) hereditary dentin disorder, which occurs in the absence of any systemic disorder. The patients with DI presented rapid and severe attrition in primary teeth, which causes functional disorders and unusual discomforting appearance.Case presentation: The purpose of this case report was to describe the clinical, radiographical, Familial, histopathological, and genotype characteristics of a 2.5-year-old boy with early diagnosis of dentinogenesis imperfecta type II. In this case, it was also presented an uncommon and novel treatment method to promote function and esthetic of dentinogenesis imperfecta patients with 18-month follow up. The treatment plan included two major phases: 1) Restoring badly destroyed teeth by stainless steel crowns to reconstructed ideal function and 2) Using Wiedenfeld’s method for making the appearance of anterior teeth better and acceptable.Conclusion: Combination of “restoring destroyed teeth by steel crowns” and “using Wiedenfeld’s method for anterior teeth” provided function and esthetic successfully for patients with dentinogenesis imperfecta.

Background: Dentinogenesis imperfecta type I (DGI-I) is a hereditary alteration of dentin associated with osteogenesis imperfecta (OI). Aim: To describe and study the morphological characteristics of DGI-I with scanning electron microscopy (SEM). Material and methods: Twenty-five teeth from 17 individuals diagnosed with OI and 30 control samples were studied with SEM at the level of the enamel, dentin–enamel junction (DEJ) and four levels of the dentin, studying its relationship with clinical–radiographic alterations. The variables were analysed using Fisher's exact test, with a confidence level of 95% and asymptotic significance. Results: OI teeth showed alterations in the prismatic structure in 56%, interruption of the union in the enamel and dentin in 64% and alterations in the tubular structure in all of the cases. There is a relationship between the severity of OI and the morphological alteration of the dentin in the superficial (p = 0.019) and pulpar dentin (p 0.004) regions. Conclusions: Morphological alterations of the tooth structure are found in OI samples in the enamel, DEJ and dentin in all teeth regardless of the presence of clinical–radiographic alterations. Dentin structural anomalies and clinical dental alterations were observed more frequently in samples from subjects with a more severe phenotype of OI. [ABSTRACT FROM AUTHOR]

Hereditary dentin defects are conventionally classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). Mutations in the dentin sialophosphoprotein (DSPP) gene have been identified to cause DGI type II and III and DD type II; therefore, these are not three different conditions, but rather allelic disorders. In this study, we recruited three families with varying clinical phenotypes from DGI-III to DD-II and performed mutational analysis by candidate gene analysis or whole-exome sequencing. Three novel mutations including a silent mutation (NM_014208.3: c.52-2del, c.135+1G>C, and c.135G>A; p.(Gln45=)) were identified, all of which affected pre-mRNA splicing. Comparison of the splicing assay results revealed that the expression level of the DSPP exon 3 deletion transcript correlated with the severity of the dentin defects. This study did not only expand the mutational spectrum of DSPP gene, but also advanced our understanding of the molecular pathogenesis impacting the severity of hereditary dentin defects. [ABSTRACT FROM AUTHOR]

Mutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentinogenesis imperfecta type-III (DGI-III). DSPP mutations fall into two groups: a 5′-group that affects protein targeting and a 3′-group that shifts translation into the −1 reading frame. Using whole-exome sequence (WES) analyses and Single Molecule Real-Time (SMRT) sequencing, we identified disease-causing DSPP mutations in 12 families. Three of the mutations are novel: c.53T>C/p.(Val18Ala); c.3461delG/p.(Ser1154Metfs*160); and c.3700delA/p.(Ser1234Alafs*80). We propose genetic analysis start with WES analysis of proband DNA to identify mutations in COL1A1 and COL1A2 causing dominant forms of osteogenesis imperfecta, 5′-DSPP mutations, and 3′-DSPP frameshifts near the margins of the DSPP repeat region, and SMRT sequencing when the disease-causing mutation is not identified. After reviewing the literature and incorporating new information showing distinct differences in the cell pathology observed between knockin mice with 5′-Dspp or 3′-Dspp mutations, we propose a modified Shields Classification based upon the causative mutation rather than phenotypic severity such that patients identified with 5′-DSPP defects be diagnosed as DGI-III, while those with 3′-DSPP defects be diagnosed as DGI-II. [ABSTRACT FROM AUTHOR]

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