Rubinstein-Taybi Syndrome: A Rare Case Report
Por um escritor misterioso
Last updated 03 março 2025
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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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Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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Rubinstein-Taybi syndrome: MedlinePlus Genetics
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Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update
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Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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Rubinstein- Taybi Syndrome, Congenital Hand and Arm Differences
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PDF) Rubinstein-Taybi syndrome medical guidelines
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Genes, Free Full-Text
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Anaesthesia in an adult with Rubenstein–Taybi syndrome using the ProSeal laryngeal mask airway - British Journal of Anaesthesia
Rubinstein–Taybi Syndrome with Psychosis - Raghavendra B. Nayak, Ambika Lakshmappa, Nanasaheb M. Patil, Sameeran S. Chate, Lohit Somashekar, 2012
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