A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Por um escritor misterioso
Descrição
A 8 years old male with classic Rubinstein-Taybi syndrome that has accompanied tetralogy of fallot is reported. Rubinstein-Taybi syndrome is a rare autosomal dominant syndrome characterized by facial dysmorphism, broad thumbs and halluces, short stature, intellectual disability and variable organ anomalies such as eye, genital, renal and cardiac anomalies. The characteristic facial features are high arched eye brows, downslanting palpebral fissures, ptosis, epicanthal folds, an extended columella, high arched palate, and dental abnormalities. Broad thumbs and halluces are distinctive features for Rubinstein-Taybi syndrome. A variety of congenital heart defects are reported in Rubinstein-Taybi syndrome. Tetralogy of fallot have been reported very rare in Rubinstein-Taybi syndrome so far. Here we report a 8 years old male with classic Rubinstein-Taybi syndrome that has accompanied tetralogy of fallot.
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PDF) Rubinstein-Taybi Syndrome: A Case Report
Phenotype and genotype in 52 patients with Rubinstein–Taybi
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