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Objectives: Root resorption in permanent teeth is a common pathological process that often follows dental trauma or orthodontic treatment. More rarely, root resorption is a feature of genetic disorders and can help with diagnosis. Thus, the present review aims to determine which genetic disorders could induce pathological root resorptions and thus which mutated genes could be associated with them., Methods: We conducted a systematic review following the PRISMA guidelines. Articles describing root resorptions in patients with genetic disorders were included from PubMed, Embase, Web of Science, and Google Scholar. We synthesized the genetic disorder, the type, severity, and extent of the resorptions, as well as the other systemic and oral symptoms and histological features., Results: The synthetic analysis included 25 studies among 937 identified records. We analyzed 21 case reports, three case series, and one cohort study. Overall, we highlighted 14 different pathologies with described root resorptions. Depending on the pathology, the sites of resorption, their extent, and their severity showed differences., Conclusion: With 14 genetic pathologies suspected to induce root resorptions, our findings are significant and enrich a previous classification. Among them, three metabolic disorders, three calcium-phosphorus metabolism disorders, and osteolysis disorders were identified., (© 2024 Wiley Periodicals LLC.)

Objectives: The COHQoL is a set of questionnaires used to evaluate the impact of oral health on children's quality of life. Although the CPQ8-10 and the P-CPQ have been translated and validated in French, the CPQ11-14 14 has not yet been validated. The aim was to develop a French version of the CPQ11-14 16-items., Materials and Methods: The French version of CPQ11-14 was obtained by a forward-backward translation process and pretested. The final version was tested on children aged 11-14 and divided into three groups: children with orofacial clefts, children with rare dental diseases other than clefts, and children without anomalies. We conducted a cross-sectional study and evaluated the reliability with test-retest and internal consistency, and the questionnaire validity with construct validity and discriminant validity. We performed an Exploratory Factory Analysis (EFA)., Results: 187 children tested the questionnaire. The ICC of the test-retest was 0.76 and the Cronbach's alpha was 0.77. The correlation between the CPQ11-14 and self-assessment of oral health and general well-being was > 0.2. Patients with orofacial clefts and rare diseases had significantly higher scores for overall short-form CPQ11-14. The EFA revealed six factors., Conclusion: The French CPQ11-14 is valid to assess the impact of oral health on children's quality of life., Clinical Relevance: The translation of this questionnaire into French will enable us to assess the impact of oral health on the quality of life of adolescents. This questionnaire complements the 8-10 years version of the CPQ, as well as the parental version that can be used in conjunction with the questionnaire., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Aim: Oligodontia (OD) is a rare developmental condition characterized by the absence of six or more teeth. Dental implant placement may be challenging due to anatomical factors. This study aims to evaluate the alveolar bone dimensions in OD patients compared with controls., Materials and Methods: On maxillary and mandibular cone-beam computed tomography (CBCT), bone height and width were measured at every tooth and edentulous site. The distance to the inferior alveolar nerve was also measured. Fifty-three OD patients (40 maxillary and 32 mandibular CBCT) and 82 controls (51 maxillary and 31 mandibular CBCT) were compared using mixed models., Results: Compared with those in OD patients, maxillary permanent teeth and edentulous sites showed significantly higher mean height in control patients (incisive-canine site height: +2.12 mm; edentulous incisive-canine site height: +4.46 mm [p > .001]). For the mandibular permanent teeth, mean height was higher in controls than in OD patients at the incisive-canine (+3.82 mm [p > .001]) and premolar areas (+2.06 mm [p > .001]). Only edentulous incisive-canine sites were significantly different between controls and OD patients (mean: +0.52 mm [p > .001]). Changes in alveolar nerve position were observed in case of molar agenesis., Conclusion: Maxillary and mandibular bone dimensions are reduced in OD patients compared with controls both in sites with permanent teeth and in edentulous areas., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition. Using Next Generation Sequencing (NGS), four novel RELT variants were identified (c.120+1G>A, p.(?); c.120+1G>T, p.(?); c.193T>C, p.(Cys65Arg) and c.1260_1263dup, p.(Arg422Glyfs*5)). Our findings extend the knowledge of ARAI dental phenotypes and expand the disease-causing variants spectrum of the RELT gene., (© 2023. The Author(s), under exclusive licence to European Society of Human Genetics.)

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions-MLRB2 in α1(I) and MLBR 3 in α2(I)-could significantly predict DI ( P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.

Oral mucosal lesions are common in the pediatric population and, apart from traumatic and tumoral etiologies, they can be symptoms of viral, bacterial, fungal or parasitic diseases. Yet, pediatricians and pediatric dentists find it challenging to reach a diagnosis and provide appropriate care when facing lesions of the masticatory or lining mucosa, of the hard or soft palate, of the tongue or salivary glands. Here, we propose a decision tree for the diagnosis of the most frequent viral, bacterial, and fungal diseases starting from their oral lesions in children. By first focusing on describing the elementary lesion itself before its localization and characteristics, it aims to guide the practitioner toward the diagnosis and any necessary complementary exams. To generate this tool, we conducted a literature review of the childhood viral, bacterial, fungal and parasitic diseases with oral mucosal symptoms. For each of the 42 reported diagnoses-20 viral, 9 bacterial, 5 fungal, and 8 parasitic-we collected the infection mechanism and agent(s), the oral lesions and their description, the associated systemic signs and the incidence/prevalence. In fine, our decision tree indexes the 28 diseases for which epidemiological data was available, mainly in Europe and the United States., (Copyright © 2022 Guillouet, Riou, Duong, de La Dure-Molla and Fournier.)

Background: Singleton-Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by IFIH1 variations with blood vessel calcifications, teeth anomalies, and bone defects. Aim: We aimed to summarize the oral findings in SGMRT1 through a systematic review of the literature and to describe the phenotype of a 10-year-old patient with SGMRT1 diagnosis. Results: A total of 20 patients were described in the literature, in nine articles. Eight IFIH1 mutations were described in 11 families. Delayed eruption, short roots, and premature loss of permanent teeth were the most described features (100%). Impacted teeth (89%) and carious lesions (67%) were also described. Our patient, a 10-year-old male with Singleton-Merten syndrome, presented numerous carious lesions, severe teeth malposition, especially in the anterior arch, and an oral hygiene deficiency with a 100% plaque index. The panoramic X-ray did not show any dental agenesis but revealed very short roots and a decrease in the jaw alveolar bone height. The whole-genome sequencing analysis revealed a heterozygous de novo variant in IFIH1 (NM&#95;022168.4) c.2465G > A (p.Arg822Gln). Conclusion: Confused descriptions of oral features occurred in the literature between congenital findings and "acquired" pathology, especially carious lesions. The dental phenotype of these patients encompasses eruption anomalies (delayed eruption and impacted teeth) and lack of root edification, leading to premature loss of permanent teeth, and it may contribute to the diagnosis. An early diagnosis is essential to prevent teeth loss and to improve the quality of life of these patients. Systematic Review Registration : [https://www.crd.york.ac.uk/prospero/], identifier [CRD42022300025]., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Riou, de La Dure-Molla, Kerner, Rondeau, Legendre, Cormier-Daire and Fournier.)