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Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or pa...

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Detalles Bibliográficos
Autores principales: Loomba, Rohit S, Geddes, Gabrielle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4453189/
https://www.ncbi.nlm.nih.gov/pubmed/26085772
http://dx.doi.org/10.4103/0974-2069.154151
Descripción
Sumario:Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome.