A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

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.

Low bone mineral density on DXA and slipped capital femoral

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Clinical approach to congenital heart disease diagnosis

Clinical and Experimental Pediatrics

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Rubinstein-Taybi Syndrome: A Case Report

Two adults with Rubinstein–Taybi syndrome with mild mental

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further

Congenital Malformations and Syndromes: Early Diagnosis and

Multidetector Computed Tomography for Congenital Anomalies of the

Is Human Genetic Modification Good Or Bad