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.

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.
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: 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.

OBJECTIVE: To construct the three-dimensional structure of the isolated teeth of patients with dentinogenesis imperfecta type Ⅱ (DGI-Ⅱ) and dentin dysplasia type Ⅰ (DD-Ⅰ) by using Micro-CT and explore internal structure and hard tissue mineralization density.
METHODS: The three-dimensional structures of the third molars collected from patients with DGI-Ⅱ and DD-Ⅰ and healthy individuals of the same age were reconstructed by using Micro-CT (Mimics 17.0). The internal structures of the affected teeth along the sagittal and transverse planes were observed. The grayscale values of the enamel, crown dentin, and root dentin were calculated. Then, the mineralization densities of the different parts of the teeth of the three groups were analyzed.
RESULTS: The detailed three-dimensional models of the mandibular third molars with hereditary dentin defects were successfully constructed. The models contained the models of the enamel cap, dentin core, and pulp cavity. Sagittal and transverse section scans revealed that in patients with DGI-Ⅱ, the pulp cavity was incompletely calcified and the root canal was narrow, whereas in those with DD-Ⅰ, the pulp cavity and root canal were obliterated and the root of the tooth was absent. The analysis of the grayscale values showed that compared with those in the healthy group, the grayscale values of the enamel, crown dentin, and root dentin were lower in the DGI-Ⅱ and DD-Ⅰ groups (P<0.01). No significant differences in the grayscale values of the enamel and crown dentin were found between the DGI-Ⅱ and DD-Ⅰ groups (P>0.05), whereas the grayscale value of the root dentin showed statistically significant differences between the two groups (P<0.01).
CONCLUSIONS: The application of Micro-CT provided a simple and accurate method for the three-dimensional structure reconstruction and quantitative analysis of the mineralization density of isolated teeth with hereditary dentin defects. Although the dentin mineralization density of DGI-Ⅱ and DD-Ⅰ teeth decreased, the decrement shown by DD-Ⅰ teeth was more significant than that shown by DGI-Ⅱ teeth. The pulp cavity had abnormal calcifications, and the root canal was narrow or even occluded.
目的: 采用Micro-CT构建Ⅱ型牙本质发育不全（DGI-Ⅱ）和Ⅰ型牙本质发育不良（DD-Ⅰ）离体患牙的三维结构，研究该类患牙的内部结构及硬组织矿化密度的变化。方法: 收集同龄DGI-Ⅱ、DD-Ⅰ患者及健康者的第三磨牙，运用Micro-CT对3份样本逐一扫描并通过Mimics 17.0重建三维结构；截取矢状面和横断面观察患牙的内部结构；分别计算釉质、冠部牙本质以及根部牙本质的灰度值，分析牙齿不同部位的矿化密度。结果: 成功构建包括牙釉质帽、牙本质核和牙髓腔模型在内的DGI-Ⅱ、DD-Ⅰ患者的下颌第三磨牙三维精细模型；矢状面和横断面扫描显示DGI-Ⅱ患牙髓腔未完全钙化、根管狭窄，DD-Ⅰ患牙髓腔及根管闭锁、牙根缺如；灰度值分析发现DGI-Ⅱ、DD-Ⅰ患牙釉质、冠部牙本质及根部牙本质灰度值较正常对照组低（P<0.01）；DGI-Ⅱ、DD-Ⅰ两组相比，釉质、冠部牙本质灰度值差异无统计学意义（P>0.05），根部牙本质的灰度值差异有统计学意义（P<0.01）。结论: Micro-CT技术为遗传性牙本质发育缺陷离体患牙的三维结构重建及其矿化密度定量分析提供了简单而精确的方法。其中DGI-Ⅱ、DD-Ⅰ患牙的牙本质矿化密度均降低，DD-Ⅰ患牙降低更显著，髓腔内均有异常钙化物质，根管狭窄甚至闭塞。.

BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.

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.

Children with dentinogenesis imperfecta require restorative or prosthodontic treatment to minimize the aesthetic and functional impact of the condition. This clinical case report describes the oral rehabilitation procedure in a 12-year-old patient with dentinogenesis imperfecta type II using nanoceramic resin crowns fabricated with Computer-Aided Design/Computer-Aided Manufacturing (CAD/CAM) technology and the patient\'s progression over eight years. This minimal intervention approach enabled functional and aesthetic reestablishment along with tooth wear prevention. The result simplified an extensive prosthetic procedure and facilitated an affordable rehabilitation for the young patient while providing excellent long-term outcomes.

The dentine sialophosphoprotein (DSPP) gene is the only identified causative gene for dentinogenesis imperfecta type 2 (DGI-II), dentinogenesis imperfecta type 3 (DGI-III) and dentine dysplasia type 2 (DD-II). These three disorders may have similar molecular mechanisms involved in bridging the DSPP mutations and the resulting abnormal dentine mineralisation. The DSPP encoding proteins DSP (dentine sialoprotein) and DPP (dentine phosphoprotein) are positive regulators of dentine formation and perform a function during dentinogenesis. The present review focused on the recent findings and viewpoints regarding the relationship between DSPP and dentinogenesis as well as mineralisation from multiple perspectives, involving studies relating to spatial structure and tissue localisation of DSPP, DSP and DPP, the biochemical characteristics and biological function of these molecules, and the causative role of the proteins in phenotypes of the knockout mouse model and in hereditary dentine defects.

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.
METHODS: 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.
OBJECTIVE: 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.

BACKGROUND: Dentinogenesis imperfecta (DI) is an autosomal-dominant disorder. The most common clinical manifestations, including obliterated tooth tissues and severe tooth wear, usually lead to tooth extractions. It remains a great challenge for dentists to preserve the residual tooth tissue and establish the esthetics and occlusion of dentitions.
METHODS: 25-year-old twin sisters, who had suffered from dentinogenesis imperfecta type II for more than 10 years, presented with continuous tooth wear and discomfort from wearing a removable partial denture for more than 3 years.
METHODS: Intraoral examination showed extensive tooth wear with enamel exfoliation and typical amber-brown color with an opalescent discoloration. Their panoramic radiographs revealed completely obliterated tooth tissues and severe tooth wear.
RESULTS: The dentitions were restored with post-and-core crowns and pin lays after preparing root post paths and pin holes guided by computer-aided design/computer-aided manufacturing (CAD/CAM) procedures, resulting in a successful repair.
CONCLUSIONS: Severe tooth wear and tooth tissue obliteration are typical clinical manifestations in DI-affected dentitions, increasing the complexity and difficulty in dental restorations. Early diagnosis and appropriate treatments are essential to achieve a favorable prognosis. CAD/CAM procedures, permitting accurate and effective treatment, possess promising potential in the treatment of DI-affected dentitions.

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.