Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

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.

Rubinstein-Taybi syndrome: MedlinePlus Genetics

PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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Rubinstein-Taybi syndrome: MedlinePlus Genetics

PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome

Seeing the Unseen: Recent Advances in Barrett's Esophagus

Barrett's Esophagus

PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome

Seeing the Unseen: Recent Advances in Barrett's Esophagus

Rare Diseases of the Orbit. - Abstract - Europe PMC

Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome, Iranian Journal of Pediatrics

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Barrett Esophagus - Gastrointestinal - Medbullets Step 1