Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 19 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.
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author
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Forgotten Diseases Research Foundation
Genes, Free Full-Text
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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
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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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