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- W2055773025 abstract "Hurler disease or syndrome is a disorder of mucopolysaccharide metabolism, inherited as an autosomal recessive trait. We describe a case of a 15-month-old female exhibiting with clinical and laboratory characteristics of the syndrome, central nervous system lesions (lissencephaly, excessive ventricular enlargement and Dandy Walker malformation with vermis atrophy, cerebellar cyst) and mongolian spots in the trunk and extremities. The combination of mongolian spots and severe central nervous system lesions in Hurler syndrome is considered a rare clinical occurrence, while the association with lissencephaly has never been reported." @default.
- W2055773025 created "2016-06-24" @default.
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- W2055773025 date "2003-07-01" @default.
- W2055773025 modified "2023-10-14" @default.
- W2055773025 title "Lissencephaly and mongolian spots in hurler syndrome" @default.
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- W2055773025 doi "https://doi.org/10.1016/s0887-8994(03)00041-9" @default.
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