Peripheral Corneal Opacification and Skeletal Deformities

Two female siblings, ages 5 and 13, had conditions diagnosed as mucopolysaccharidosis by the presence of increased mucopolysaccharides of the skin culture of the sisters and both parents. In addition to many signs common to the mucopolysaccharidoses, they had severe progressive intraarticular joint destruction and peculiar progressive peripheral annular corneal opacifications. The latter signs indicate that these sisters represent a new mucopolysaccharidosis.