Translation and validation of the French version of the child perceptions questionnaire for children aged 11 to 14 years old (CPQ11-14) short-form.

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.

Root resorptions induced by genetic disorders: A systematic review.

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.

Replacement of missing lateral incisors for patients with cleft lip and palate: A decision-making tree based on a systematic review of the literature.

Statement Of Problem: Cleft lip and palate are the most frequent congenital anomalies of the face and are often linked with lateral incisor agenesis. The therapeutic decision on whether and how to replace the lateral incisors is not straightforward, and a decision-making tree is needed.

Purpose: The purpose of this systematic review was to evaluate the available literature reporting on treatments for the replacement of missing lateral incisors in cleft areas.

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

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).

Reduced bone dimension in patients affected by oligodontia: A retrospective study on maxillary and mandibular CBCT.

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.

: Next-generation sequencing sheds light on Witkop's classification.

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop's classification (Witkop, J Oral Pathol, 1988, 17, 547-553).

Unequal Impact of and Variants on Dentinogenesis Imperfecta.

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by or 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 or variants.

The dental triage method at Rothschild Hospital during the first lockdown due to the COVID-19 pandemic.

Objective: This study aims to (1) assess the efficacy of a face-to-face emergency protocol in children and adults and (2) measure the efficacies of prediagnosis at the triage level and clinical diagnosis at the emergency department level during the COVID-19 pandemic.

Methods: A triage protocol was applied for patients at the entry of the Rothschild Hospital (AP-HP) between March 18th and May 11th, 2020. First, patients underwent a triage based on self-reported symptoms.

Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.

Singleton-Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by variations with blood vessel calcifications, teeth anomalies, and bone defects. 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. A total of 20 patients were described in the literature, in nine articles.

Dental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.

Objective: This retrospective radiographic controlled study investigates the dental phenotype in patients with Crouzon syndrome to determine if differences are observed as suggested by the FGFR2 Crouzon mouse models, and whether these models could be of interest to study the role of this mutation in tooth development.

Design: We assessed dental phenotype using dedicated linear measurements in 22 children with Crouzon syndrome and compared tooth morphology in both primary and permanent dentitions to an age-matched control group. Descriptive statistics were performed with "Sex" and "Age" as covariates for the permanent tooth models and "Sex" only for the primary tooth models, to take into account potential confounding factors.

Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome.

Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, intrapulpal calcifications, gingival overgrowth and nephrocalcinosis. Although gingival overgrowth has consistently been associated with heterotopic calcifications the pathogenesis, structure and interactions of the mineral deposits with the surrounding connective tissue are largely unknown.

Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study.

Methodology: Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites.

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.

Background: Incontinentia pigmenti (IP) is a rare multisystemic X-linked dominant genetic disorder characterized by highly diagnostic skin lesions. The disease can be misdiagnosed in infants, and complications affecting the eyes and/or the brain can be severe. Our objective was to highlight the urgency of an appropriate diagnosis and management strategy, as soon as the first symptoms appear, and the need for a well-codified monitoring strategy for each child.

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists.

Translation and cross-cultural validation of the French version of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire.

Background: Sleep-disordered breathing (SDB), including obstructive sleep apnea syndrome, is often underestimated because it requires a burdensome test (ie, polysomnography) to ensure diagnosis. To improve polysomnography referral, it is of utmost importance to validate efficient alternative screening tools. This study aimed to provide a translation and a cross-cultural validation of the Pediatric Sleep Questionnaire (PSQ) into French to obtain an easy-to-use and reliable screening tool.

Parental-Caregivers Perceptions Questionnaire (P-CPQ): translation and evaluation of psychometric properties of the French version of the questionnaire.

Background: The Parental-Caregivers Perceptions Questionnaire (P-CPQ) is a measure of parental/caregivers' perceptions of the impact of children's oral health on quality of life. The aim of the study was evaluate the psychometric properties of the French version of the P-CPQ.

Method: The original P-CPQ was developed in English language and has 31 items divided into four sub-scales.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta.

Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports.

Background: Hereditary enamel defect diseases are regrouped under the name "Amelogenesis Imperfecta" (AIH). Both dentitions are affected. Clinical expression is heterogeneous and varies between patients.

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

The most common outcome of defective dental morphogenesis in human patients is dental agenesis (absence of teeth). This may affect either the primary or permanent dentition and can range from 5 or fewer missing teeth (hypodontia), 6 or more (oligodontia), to complete absence of teeth (anodontia). Both isolated and syndromic dental agenesis have been reported to be associated with a large number of mutated genes.

Translation and validation of the French version of the Child Perceptions Questionnaire for children aged from 8 to 10 years old (CPQ ).

Background: The Child Perceptions Questionnaire (CPQ) belongs to a set of questionnaires measuring Child Oral Health Quality of Life (COHQOL). The CPQ is used to collect the perceptions of children on the impact of oral diseases on their quality of life. This cross-sectional study was aimed to translate the CPQ into French language and evaluate its psychometric properties.

Prosthetic Rehabilitation of a Patient with Rare and Severe Enamel Renal Syndrome.

Dental rehabilitation of acute cases of enamel renal syndrome is challenging due to the absence of clinical reports. In the present case history report, examination of an 18-year-old patient revealed a complete lack of permanent teeth, as well as irregular and swollen bone and gingival morphology. Radiographs showed multiple impacted teeth in both arches.

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study.

Background: In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France.