The Rubinstein-Taybi syndrome: A report of two cases

Abstract

Two new cases of the Rubinstein-Taybi syndrome are described. It is suggested that definition of the syndrome requires abnormal thumbs and great toes, a characteristic facies in which a variable degree of mandibulo-facio- cranial dysostosis is important, and mental retardation. The palmar dermatoglyphic pattern is unusual and may even prove to be diagnostic. The condition can be recognized at birth, and indeed should be as mental retardation is invariable.