Rubinstein-Taybi syndrome.
Rubinstein-Taybi (broad thumb and big toe) syndrome, is characterized by mental and motor retardation and skeletal deformities of which broad thumb and large first toe are the most obvious. In addition, defects of the cardiovascular system and the urinary tract may be present. A case of Rubinstein-Taybi syndrome in a boy is presented.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D006801:Humans; D008297:Male; D012415:Rubinstein-Taybi Syndrome; D014551:Urinary Tract / Q000002:abnormalities; D014567:Urography