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- W2044149854 abstract "The Hagberg-Santavuori syndrome, the infantile form of the lipopigment storage disorders (so-called neuronal ceroid-lipofuscinoses), is a rare autosomal recessive disease characterized by progressive mental and motor deterioration with an onset between 1 and 1 1/2 years of age. Visual impairment is usually evident early in the disease and hypopigmented retinal degeneration has been described. We studied two unrelated patients with the infantile Hagberg-Santavuori form and found stellate posterior polar cataracts and retinal degeneration with hyperpigmented bone spicules in both." @default.
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- W2044149854 date "1986-08-01" @default.
- W2044149854 modified "2023-09-23" @default.
- W2044149854 title "Ocular Features of the Hagberg-Santavuori Syndrome" @default.
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- W2044149854 doi "https://doi.org/10.1016/0002-9394(86)90155-8" @default.
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