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      Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update

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          Abstract

          Abstract Introduction: Oral and dental (OD) disorders in children with Rubinstein-Taybi syndrome (RTS) are frequent but not well-known by dentists and pediatricians due to the syndrome being extremely rare. Objective: To describe the OD findings observed in a 5-year-old girl with RTS and to update the literature. Clinical case: The patient presented the following OD manifestations: prominent lower lip, narrow mouth opening, narrow and arched palate, history of angular cheilitis, micrognathia, poor lingual motility, plaque and tartar, bleeding from gingival areas due to poor dental prophylaxis, and malocclusion in the form of an anterior open bite. These OD manifestations are seen in more than 40-60% of patients with RTS. Conclusions: Professionals who treat children with RTS should become aware of the advisability of referring them to the pediatric dentist from 1 year of age and performing check-ups every 6 months. Dental management is often difficult so collaboration with anesthesiologists is recommended in order to carry out a safe and effective treatment.

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          Most cited references15

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          Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.

          Rubinstein-Taybi syndrome (RTS; OMIM # 180849) is a well-known disorder characterized by mental and growth retardation, broad thumbs and great toes, and unusual facial characteristics. We studied oro-dental findings in a group of RTS patients: 12 from the UK, 2 from Greece, and 26 from France. All were examined by two investigators, using the Diagnosing Dental Defects Database record form to document these. Various oro-dental features were found: small mouth, retrognathia, micrognathia, highly arched and narrow palate, talon cusps, expressed crowding, screwdriver incisors, cross bites, and enamel hypoplasia. Eruption was usually normal. Specific attention for these anomalies should facilitate diagnosis and help adequate management. (c) 2007 Wiley-Liss, Inc.
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            Rubinstein-Taybi syndrome in diverse populations.

            Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.
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              Periodontal disease in a Rubinstein-Taybi syndrome patient: case report.

              Rubinstein-Taybi syndrome (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental and motor retardation, small stature, broad thumbs and toes, characteristic face, high-arched palate, and recurrent respiratory infections. The present report describes the periodontal and immunological status of a 14-year-old female patient with RTS. Probing depth, clinical attachment level, bleeding on probing, and radiographic evaluation were performed. Periodontal examination revealed severe attachment loss in incisors and molars and generalized bleeding on probing. Periodontal treatment consisted of scaling and root planing and oral hygiene instructions. Periodontal treatment resulted in resolution of gingival inflammation and pocket depth reductions. The association of periodontal disease and RTS is previously undescribed. This case report underscores the importance of periodontal clinical diagnosis and the possibility of successful periodontal treatment in RTS patients.
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                Author and article information

                Journal
                ijm
                Iberoamerican Journal of Medicine
                Iberoam J Med
                Hospital San Pedro (Logroño, La Rioja, Spain )
                2695-5075
                2695-5075
                2021
                : 3
                : 2
                : 169-172
                Affiliations
                [1] Huesca orgnameUniversity of Zaragoza orgdiv1Faculty of Health and Sports Sciences España
                [2] Zaragoza orgnameHLA Hospital Montpellier orgdiv1Pediatrics Emergency Service España
                [3] Zaragoza orgnameSocial Services Institute of Aragón España
                Article
                S2695-50752021000200010 S2695-5075(21)00300200010
                10.5281/zenodo.4483765
                55c59b16-767c-44ac-adf6-0fa7a35ed160

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 05 January 2021
                : 21 January 2021
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 15, Pages: 4
                Product

                SciELO Spain

                Categories
                Case Report

                Disabled persons,Determination of healthcare needs,Special patients,Talon cusps,Rubinstein-Taybi syndrome,Odontostomatology disorders,Pediatric dentistry

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