Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 01 abril 2025

A case of RTS with multiple keloids along with classical features of the disorder in a 30‐year male is reported. © 2019 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Sir, The Rubinstein‐Taybi syndrome (RTS) is a rare neurodevelopmental disorder characterised by mental retardation, microcephaly, specific facial characteristics, broad thumbs and big toes.[1] Diagnosis is often difficult due to its rarity and non‐familiarity with the classical features of this syndrome. Cutaneous findings such as capillary malformations, hirsutism, keloid formation, and pilomatricomas have been described previously in association with RTS.[2] We report a case of RTS with multiple keloids along with classical features of the disorder in a 30‐year male.

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

PDF) Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case

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

Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update : Iberoamerican Journal of Medicine : Free Download, Borrow, and Streaming : Internet Archive

Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics

PDF) Rubinstein-Taybi syndrome medical guidelines

Rubinstein- Taybi Syndrome, Congenital Hand and Arm Differences
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