Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Descrição
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: A case report

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Special Needs Spotlight

Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update : Iberoamerican Journal of Medicine : Free Download, Borrow, and Streaming : Internet Archive

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

PDF) Rubinstein-Taybi Syndrome: A Case Report

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

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

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
de
por adulto (o preço varia de acordo com o tamanho do grupo)