Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Por um escritor misterioso
Last updated 16 junho 2024
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13052-015-0110-1/MediaObjects/13052_2015_110_Fig1_HTML.gif)
Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS. Discussion RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. Summary The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://d3i71xaburhd42.cloudfront.net/aa62e4fcb16ad3ec9ce9a83eee80cd1b5c6a8f91/3-Figure4-1.png)
PDF] Rubinstein-Taybi Syndrome: A Case Report
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://www.researchgate.net/publication/370716552/figure/tbl1/AS:11431281157902015@1683938074949/Clinical-features-of-Rubinstein-Taybi-syndrome-illustrated-in-Korean-medical-journals_Q320.jpg)
Clinical characteristics of present cohort of patients with
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://www.e-cep.org/upload//thumbnails/kjped-53-718-g001.jpg)
Clinical and Experimental Pediatrics
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://www.researchgate.net/publication/45695194/figure/fig2/AS:267543680122945@1440798792593/Clinical-photos-of-the-patients-a-Case-1-Dysmorphic-facial-features-include.png)
Clinical photos of the patients. (a) Case 1: Dysmorphic facial
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627192936-46366-mediumThumb-S1462399407000415_fig1g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://i1.rgstatic.net/publication/340370198_Exogenous_and_endogenous_HDAC_inhibitor_effects_in_Rubinstein-Taybi_syndrome_models/links/60192e36299bf1b33e407fcd/largepreview.png)
PDF) Exogenous and endogenous HDAC inhibitor effects in Rubinstein
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41431-022-01097-8/MediaObjects/41431_2022_1097_Fig1_HTML.png)
The natural history of adults with Rubinstein-Taybi syndrome: a
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://www.jpeds.com/cms/asset/4c38d61b-9b84-49bf-a00c-c90023c5e1bc/gr1.jpg)
Rubinstein-Taybi Syndrome: Presentation in the First Month of Life
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://0.academia-photos.com/attachment_thumbnails/74496282/mini_magick20211110-2130-82fw1w.png?1636564977)
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://www.researchgate.net/profile/Paola-Ajmone/publication/271223834/figure/tbl1/AS:669139781828630@1536546764759/The-incidence-of-a-number-of-typical-features-of-RSTS_Q320.jpg)
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
![Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41576-018-0031-0/MediaObjects/41576_2018_31_Fig2_HTML.jpg)
Diagnosis and management of Cornelia de Lange syndrome: first
Rubinstein-Taybi syndrome with scoliosis treated with single-stage
Recomendado para você
-
Rubinstein-Taybi syndrome: MedlinePlus Genetics16 junho 2024
-
Forgotten Diseases Research Foundation16 junho 2024
-
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment16 junho 2024
-
sindrome rara rubinstein-taybi Estella16 junho 2024
-
Síndrome de Rubinstein-Taybi • Neuraxis16 junho 2024
-
Revista rst edição 4REVISTA RST-SINDROME RUBINSTEIN TAYBI by elaine paoli - Issuu16 junho 2024
-
3 de julio: “Día Mundial del Síndrome de Rubinstein Taybi (SRT)” – Facultad de Ciencias Médicas16 junho 2024
-
Día Internacional del Síndrome de Rubinstein-Taybi: Una jornada para crear conciencia16 junho 2024
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library16 junho 2024
-
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly16 junho 2024
você pode gostar
-
Anime Everyday on X: Chateau 💛 Anime: Koroshi Ai / X16 junho 2024
-
Alfred Molina Returning As Doctor Octopus For The Next MCU Spider16 junho 2024
-
Top 8 Places to Watch Dubbed Anime Online Free - MiniTool MovieMaker16 junho 2024
-
Fabrica de Bolo Vó Alzira CarapicuibaAv. Inocêncio Seráfico, 96 - Centro, Carapicuíba - SP, 06320-29016 junho 2024
-
Wimbledon 2018: As Serena Williams chases her 24th Grand Slam, her legacy as the greatest of all time is already secure16 junho 2024
-
Top Gun: Maverick - Wikipedia16 junho 2024
-
ASSISTA AGORA DE GRAÇA!!! Kimetsu no Yaiba: Demon Slayer Season 2 [2º Temporada]16 junho 2024
-
como pegar novo gelo free fire 202316 junho 2024
-
DARLING in the FRANXX Character Card Zero Two Ichigo Kokoro Miku Kentaro Yabuki16 junho 2024
-
Alekhine Wins A Brilliancy Vs. Lasker! - Best Of The 30s - Alekhine vs. Lasker, 193416 junho 2024