Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 22 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.
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A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome - JSES International
Rubinstein- Taybi Syndrome, Congenital Hand and Arm Differences
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
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
History and Prevalence
Rubinstein-Taybi Syndrome: A Rare Case Report
Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
Rubinstein-Taybi Syndrome Awareness
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