Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
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Descrição
In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
rubinstein-taybi syndrome adults - Google Search
Patient 1 showing a mild RTS variant (incomplete RTS). (A, B) Note
Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
Facial features of Rubinstein-Taybi syndrome
Forgotten Diseases Research Foundation
