Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 02 julho 2024
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://assets.cureus.com/uploads/figure/file/160995/article_river_df680700285511ebb7fce1eb16dbd7ec-Esophageal-stricture.png)
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://webpath.med.utah.edu/jpeg4/GI171.jpg)
Gastrointestinal Pathology
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.121/MediaObjects/41431_2011_Article_BFejhg2010121_Fig1_HTML.jpg)
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
![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://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://assets.cureus.com/uploads/figure/file/814153/article_river_3d76cb50841111eea5ac338005b097a9-Figure-1-ALL.png)
Cureus, A Review of Acute Lymphocytic Leukemia (ALL) in the Pediatric Population: Evaluating Current Trends and Changes in Guidelines in the Past Decade
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://europepmc.org/articles/PMC7136165/bin/41576_2018_31_Fig4_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://www.pediatr-neonatol.com/cms/asset/c5bccc3a-1d2f-4b6b-be84-caf9f24c8437/gr1.jpg)
Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://www.mdpi.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g001-550.jpg)
Genes, Free Full-Text
![Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome](https://image.slidesharecdn.com/marfansyndrome-180119124905/85/marfan-syndrome-9-320.jpg?cb=1666365231)
Marfan syndrome
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