All issues > Volume 34(8); 1991

Original Article

J Korean Pediatr Soc. 1991;34(8):1146-1150. Published online August 31, 1991.

A case of Rubinstein-Taybi syndrome.

Cheol Hee Hwang¹, Dong Gue Lee¹, Myung Sug Nam¹, Moon Kee Cho¹

¹Department of Pediatrics, St. Columban Hospital, Mokpo, Korea

Received: January 3, 1991;  Accepted: April 25, 1991.

Abstract

Rubinstein-taybi syndrome is characterized by typical skeletal abnormalities such as broad thumb and large first toe, mental and motor retardation, and facial abnormalities. In addition, defects of the cardiovascular system and the urinary tract may be present. We have experienced a case of Rubinstein-Taybi syndrome which a five-year-old boy had broad thumb and large first toe, mental and motor retardation, and facial abnormaiities (palpebral fissure slant downward, micrognathia, beaked nose, malformed ear, etc.). A brief of related literatures is given.

Keywords :Rubinstein-Taybi syndrome;Congenital anomaly;Mental retardation