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