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.

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

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

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Forgotten Diseases Research Foundation

Genes, Free Full-Text

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

A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome - JSES International
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: A Complete Overview — DermNet

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
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