Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 25 dezembro 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 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
Coloboma Associated With Rubinstein-Taybi Syndrome
PDF) Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
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
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update : Iberoamerican Journal of Medicine : Free Download, Borrow, and Streaming : Internet Archive
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Canal Dehiscense
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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