Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 21 setembro 2024
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.
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Rare Diseases of the Orbit. - Abstract - Europe PMC
Rubinstein–Taybi syndrome - Wikiwand
Dextrocardia Case Summary
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
Barrett's Esophagus Explained
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Cureus, A Review of Acute Lymphocytic Leukemia (ALL) in the Pediatric Population: Evaluating Current Trends and Changes in Guidelines in the Past Decade
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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