Rubinstein-Taybi Syndrome: A Rare Case Report

Por um escritor misterioso
Last updated 21 novembro 2024
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.
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Rubinstein-Taybi Syndrome: A Rare Case Report
Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology
Rubinstein-Taybi Syndrome: A Rare Case Report
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: A Rare 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
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi Syndrome: A Case Report
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi syndrome, Radiology Reference Article
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: A Rare Case Report
PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
Rubinstein-Taybi Syndrome: A Rare Case Report
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Rubinstein-Taybi Syndrome: A Rare Case Report
IJMS, Free Full-Text
Rubinstein-Taybi Syndrome: A Rare Case Report
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: A Rare Case Report
Coloboma Associated With Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi Syndrome: A case report

© 2014-2024 praharacademy.in. All rights reserved.