Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. Here, we report a case of 11year-old female with a Rubinstein-Taybi syndrome associated with amelogenesis imperfecta having normal mental status with no cardiac abnormality.

Keywords: Rubinstein-Taybi Syndrome; Amelogenesis Imperfecta; Congenital Anomalies; Broad Thumbs and Toes.