Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Por um escritor misterioso
Descrição
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.
Case 27-2014 — A 10-Month-Old Boy with Microcephaly and Episodic Cyanosis
Barrett's Esophagus
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
Images showing classical RSTS features of patient including thickened
Phenotypic Analysis of a Case of “3MC Syndrome” with Review of Literature
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
Rubinstein–Taybi syndrome European Journal of Human Genetics
PDF) Rubinstein-Taybi Syndrome: A Case Report
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
Progeria
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC
Dextrocardia Case Summary
Barrett oesophagus Nature Reviews Disease Primers
de
por adulto (o preço varia de acordo com o tamanho do grupo)