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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... |
