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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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Rubinstein–Taybi syndrome European Journal of Human Genetics
Understanding Barrett's Esophagus
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
Barrett's Esophagus Explained
Fibrodysplasia Ossificans Progressiva Research Paper
Seeing the Unseen: Recent Advances in Barrett's Esophagus
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