A case of gargoylism manifesting grotesque facial appearance, mental and growht retardation, and hepatosplenomegaly is presented.
Reilly´s bodies in the polymorphonuclear neutrophiles were not demonstrated in peripheral blood but paper spot test for acid mucopolysaccharide excretion in the urine was positive.
Roentgenographic examinations revealed elongation of the antero-posterior diameter and flattening of the Sella turcica in skull, and mild dorsolumbar kyphosis with the inferior beak like appearance of the lower dorsal and upper lumbar vertebral bodies.
The upper extremities were shortened, widened diaphyses with the irrequlqrities of the metaphyses and stunted deformities of the phalanges and metacarpalx.
Brief review of literatures was made.
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