The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue

Abstract

A new heritable disorder of connective tissue called the Wrinkly Skin Syndrome is described, This syndrome appears to be transmitted as an autosomal recessive disorder. Clinically it is characterized by the appearance at birth of wrinkled skin about the hands and feet together with an increase in the number of creases on the ventral surfaces. Other altered connective tissue manifestations are present. A discussion is given which distinguishes the clinical and genetic features of this syndrome from those found in similar known heritable disorders of connective tissue.