Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 21 setembro 2024
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.
Rubinstein- Taybi Syndrome, Congenital Hand and Arm Differences
Genes, Free Full-Text
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome - Congenital Heart International Professionals (CHiP) Network
A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome - JSES International
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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
Genes, Free Full-Text
Rubinstein-Taybi syndrome with scoliosis – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science hub.
Rubinstein-Taybi Syndrome: A Rare Case Report
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