Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 23 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 with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
PDF] Rubinstein-Taybi Syndrome: A Case Report
Rubinstein–Taybi Syndrome with Psychosis - Raghavendra B. Nayak, Ambika Lakshmappa, Nanasaheb M. Patil, Sameeran S. Chate, Lohit Somashekar, 2012
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
What to Expect Rubinstein-Taybi Syndrome
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PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Rubinstein-Taybi Syndrome
Anaesthesia in an adult with Rubenstein–Taybi syndrome using the ProSeal laryngeal mask airway - British Journal of Anaesthesia
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
PDF) Rubinstein-Taybi syndrome medical guidelines
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