Rubinstein–Taybi syndrome: A pediatric case report

Michail et al. in 1957 initially described Rubinstein–Taybi syndrome (RTS).[1] In 1963, Rubenstein and Taybi reported on approximately seven cases, which included a group of congenital anomalies consisting of short, broad thumbs and great toes, mental retardation, high-arched palates, particular facial abnormalities, and histories of recurrent respiratory infections.[1] Incidence of the syndrome has been estimated to be in 1/125,000–300,000 individuals.[2] Male and female shows equal incidence.[2-4] RTS shows autosomal dominant mode of inheritance which involves mutations of genes encoding cAMPregulated enhancer binding protein (CREBBP) and E1Abinding protein p300 (EP300). Therefore, for the diagnosis of RTS, genetic tests are useful.[5]