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Roentgenographic manifestations of Leroy's I-cell disease.

Leroy's I-cell disease is a chondrodystrophy with disturbance in skin fibroblast metabolism.The condition is apparent within the first 6 months of life.There is a severe mental and psychomotor retardation associated with coarse facial features, thickened skin, hypertrophic gingivae, joint stiffness, but without hepatosplenomegaly, or corneal opacities.The roentgenographic skeletal findings might be confused with those of a very early form of Hurler’s dysostosis multiplex, although bone lesions are now thought to appear later in the classical mucopolysaccharidoses.No significant storage process has been demonstrated in tissues other than the skin fibroblasts.Pathologic and biochemical studies have failed to disclose the nature of the brain lesion responsible for the profound mental retardation.