RUBINSTEIN-TAYBI SYNDROME - BROAD THUMBS AND GREAT TOES FACIAL ABNORMALITIES AND MENTAL RETARDATION

Abstract

Ih 1963 Rubinstein and Taybi described, in 7 children, a new symptom-complex characterized by broad thumbs and great toes, facial abnormalities, mental retardation and a cluster of congenital malformations. Since then 14 additional cases have been reported. In this paper 3 more such children are described. Chromosome studies were normal. The etiology of this disorder is unknown but it is probably genetic.