Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 10 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.

A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome - JSES International

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

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene

PDF) Rubinstein-Taybi syndrome medical guidelines

PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation

Rubinstein-Taybi Syndrome: A case report

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update : Iberoamerican Journal of Medicine : Free Download, Borrow, and Streaming : Internet Archive

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome - Congenital Heart International Professionals (CHiP) Network

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
Tardive Dystonia with Olanzapine: A Rare Case Report - Gurvinder Pal Singh, Rajinder Kumar, Poonam Bharti, 2012

Rubinstein-Taybi Syndrome

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

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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