Rubinstein-Taybi Syndrome: A Rare Case Report

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.

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

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

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Cureus, Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report

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

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi Syndrome: A Rare Case Report

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Rubinstein–Taybi Syndrome with Psychosis - Raghavendra B. Nayak, Ambika Lakshmappa, Nanasaheb M. Patil, Sameeran S. Chate, Lohit Somashekar, 2012