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January 1971

Rubinstein-Taybi SyndromeReport of an Unusual Case

Author Affiliations

Houston; Richmond, Tex; Houston
From the Department of Radiology, Texas Children's Hospital, St. Luke's Episcopal Hospital, and the Texas Heart Institute, Houston (Drs. Rohlfing and Singleton), and Richmond State School, Richmond, Tex (Dr. Lewis). Dr. Rohlfing is now with San Francisco General Hospital, San Francisco.

Am J Dis Child. 1971;121(1):71-74. doi:10.1001/archpedi.1971.02100120107018

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.