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.
Rubinstein–Taybi syndrome European Journal of Human Genetics
Mosaic CREBBP mutation causes overlapping clinical features of
Rubinstein–Taybi syndrome - Wikipedia
PDF] Rubinstein-Taybi Syndrome Associated with Pituitary
PDF) Rubinstein-Taybi syndrome: A case report
Divergent variant patterns among 19 patients with Rubinstein‐Taybi
Phenotype and genotype in 52 patients with Rubinstein–Taybi
Genes, Free Full-Text
Genes, Free Full-Text
DiGeorge syndrome - Wikiwand
Hallermann Streiff Syndrome - an overview
Frontiers Case report: A preterm infant with rubinstein-taybi
Rubinstein–Taybi syndrome: clinical and molecular overview
Phenotype and genotype in 52 patients with Rubinstein–Taybi