| A case of Rubinstein-Taybi syndrome. |
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Cheol Hee Hwang, Dong Gue Lee, Myung Sug Nam, Moon Kee Cho |
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Department of Pediatrics, St. Columban Hospital, Mokpo, Korea |
| Rubinstein-Taybi 증후군 1례 |
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황철희, 이동규, 남명숙, 조문기 |
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성골롬반병원 소아과 |
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Received: 3 January 1991 • Accepted: 25 April 1991 |
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| Abstract |
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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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