Broad thumbs and broad great toes with facial abnormalities and mental retardation

Abstract

In 1963 Rubinstein and Taybi described seven children with broad thumbs, broad great toes, facial abnormalities, and mental retardation. This symptom complex had not been described previously. Six additional cases are reported in this paper. Two children had congenital heart disease, one had renal anomalies, and all had deformities of the external ear. Two patients were siblings, suggesting a genetic etiology. The name Rubinstein-Taybi syndrome is suggested for what apparently is a new entity. In 1963 Rubinstein and Taybi described seven children with broad thumbs, broad great toes, facial abnormalities, and mental retardation. This symptom complex had not been described previously. Six additional cases are reported in this paper. Two children had congenital heart disease, one had renal anomalies, and all had deformities of the external ear. Two patients were siblings, suggesting a genetic etiology. The name Rubinstein-Taybi syndrome is suggested for what apparently is a new entity.