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A case of Rubinstein-Taybi syndrome.

Journal of the Korean Pediatric Society 1991;34(8):1146-1150.
Published online August 31, 1991.
A case of Rubinstein-Taybi syndrome.
Cheol Hee Hwang, Dong Gue Lee, Myung Sug Nam, Moon Kee Cho
Department of Pediatrics, St. Columban Hospital, Mokpo, Korea
Rubinstein-Taybi 증후군 1례
황철희, 이동규, 남명숙, 조문기
성골롬반병원 소아과
Received: 3 January 1991   • Accepted: 25 April 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.
Key Words: Rubinstein-Taybi syndrome, Congenital anomaly, Mental retardation


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