Rubinstein-Taybi Syndrome

Abstract

A patient with Rubinstein-Taybi syndrome having cleft palate, double rows of teeth, and associated deformities of the knees, elbow, and toenail, also exhibits extensive keloid formation, amino aciduria, and has a history of maternal first trimester rubella. The findings of patellar and radial head dislocation may be those of chance association, as may be the historical rubella infection. However, the latter should be sought as a possible etiology of future cases of Rubinstein-Taybi syndrome. The significance of the amino aciduria found in this patient is presently uncertain. keloid formation is presented as an unusual and generally unrecognized minor characteristic of Rubinstein-Taybi syndrome.