Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Descrição
Rubinstein-Taybi syndrome (RSTS; Online Mendelian Inheritance in Man® [OMIM®] #180849, #613684; Orpha: 783 ) is a rare plurimalformative autosomal dominant genetic disorder that affects one in 100,000-125,000 newborns with equal male and female distribution. It is characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, and moderate-to-severe intellectual disability. In addition to ocular, cardiac, renal, endocrinologic, neurological, and psychomotor abnormalities, RSTS individuals can present with several gastrointestinal symptoms such as feeding difficulties, gastroesophageal reflux, and constipation. Currently, therapeutic strategies for RSTS involves a multi-disciplinary approach focusing mainly on symptomatic management. Here, we present a case of young-onset Barrett's esophagus in a patient with Rubinstein-Taybi syndrome.
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://i1.rgstatic.net/ii/profile.image/272469898559498-1441973294769_Q64/David-Proops.jpg)
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://static.hindawi.com/articles/crig/volume-2022/3388879/figures/3388879.fig.001c.jpg)
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://image.slidesharecdn.com/bijcroo20221114-221126093531-9d39de90/85/phenotypic-analysis-of-a-case-of-3mc-syndrome-with-review-of-literature-2-320.jpg?cb=1669455693)
Phenotypic Analysis of a Case of “3MC Syndrome” with Review of Literature
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://europepmc.org/articles/PMC7136165/bin/41576_2018_31_Fig3_HTML.jpg)
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://media.springernature.com/lw685/springer-static/image/art%3A10.1007%2Fs40477-020-00491-6/MediaObjects/40477_2020_491_Fig1_HTML.jpg)
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://www.jcdr.net/articles/images/3929//jcdr-8-276-g001.jpg)
JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://onlinelibrary.wiley.com/cms/asset/6cd03fb3-6fb1-4215-b50c-765a26708e01/jum14342-fig-0002-m.jpg)
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://image.slidesharecdn.com/fibrodysplasiaossificansprogressivaresearchpaper-231104163530-429e0354/85/fibrodysplasia-ossificans-progressiva-research-paper-3-320.jpg?cb=1699116337)
Fibrodysplasia Ossificans Progressiva Research Paper
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://pathsocjournals.onlinelibrary.wiley.com/cms/asset/c8391484-c543-4e20-8734-d7ed78259037/path.v261.s1.cover.jpg)
Liverpool Pathology 2023. 14th Joint Meeting of the BDIAP and The Pathological Society, 27–29 June 2023 - 2023 - The Journal of Pathology - Wiley Online Library
Rubinstein-Taybi Syndrome 1
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://europepmc.org/articles/PMC7136165/bin/41576_2018_31_Fig1_HTML.jpg)
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://pbs.twimg.com/media/EbmyHP_XYAARHA4.jpg:large)
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://jmg.bmj.com/content/jmedgenet/44/5/327/F2.large.jpg)
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2016.47/MediaObjects/41431_2016_Article_BFejhg201647_Fig1_HTML.jpg)
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://cdn.slidesharecdn.com/ss_thumbnails/dextrocardiacasesummary-231019105644-55ffb9fa-thumbnail.jpg?width=640&height=640&fit=bounds)
Dextrocardia Case Summary
de
por adulto (o preço varia de acordo com o tamanho do grupo)