Macular Cherry-Red Spot, Corneal Clouding, and ß-Galactosidase Deficiency

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Abstract
A new syndrome which combines clinical features of several storage diseases (mucopolysaccharidoses, sphingolipidoses, and mucolipidoses), but which is nonetheless unique, is characterized by autosomal recessive inheritance and the presence of dwarfism, gargoyle facies, mental retardation, seizures, corneal clouding, macular cherry-red spot, β-galactosidase deficiency, dysostosis multiplex, and hearing deficit. It is also characterized by the absence of clinically enlarged organs, vacuolated blood cells, and mucopolysacchariduria.

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