Hurler’s Syndrome: a Clinical Report on Two Cases

Abstract

Dwarfism, hideous features, characteristic deformities of the skeleton and other abnormalities involving many systems typify this bizarre and rare condition. It is said to have been first recognized by John Thomson, of Edinburgh, about 1900 (Henderson, 1940), but the first report was that of Hunter in 1917. Entitled, “A Rare Disease in Two Brothers,” it described fully the deformed extremities, dwarfing, hepatosplenomegaly, cardiac involvement and facial appearance; yet corneal clouding, mental deficiency and gibbus, features which were later considered by many to be essential for the diagnosis of the syndrome, were absent.