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.
Rare Diseases of the Orbit. - Abstract - Europe PMC
Rubinstein-Taybi Syndrome 1
Gastrointestinal Pathology
Images showing classical RSTS features of patient including thickened
Is Barrett's Esophagus curable? - Quora
Barrett's Esophagus
Rubinstein-Taybi syndrome: MedlinePlus Genetics
rare_diseases_in_pediatric_anesthesia
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Seeing the Unseen: Recent Advances in Barrett's Esophagus
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