Descrição
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 in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
PDF) HEPATOBLASTOMA WITH RUBINSTEIN-TAYBI SYNDROME: A RARE ASSOCIATION
Bibliography on Rubinstein‐Taybi syndrome - Hennekam - 1990 - American Journal of Medical Genetics - Wiley Online Library
Canal Dehiscense
PDF] Rubinstein-Taybi Syndrome: A Case Report
Rubinstein-Taybi Syndrome: A case report
Rubinstein-Taybi Syndrome Awareness
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
PDF) Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
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 Case Report
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