Abstract
A patient suffering from Gaucher's disease observed for the first time five years age while in pregnancy and observed again during a second pregnancy ended with the delivery of a malformed female infant is presented. Laboratory findings of this case and their correlation with the clinical manifestations of this disease are underlined. Occurrence of foetal malformations in this disease is also discussed.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Abnormalities, Multiple / etiology*
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Adult
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Chromosomes, Human, 16-18
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Female
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Gaucher Disease / complications*
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Gaucher Disease / enzymology
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Hemorrhagic Disorders / etiology*
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Hepatomegaly / etiology
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Humans
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Infant, Low Birth Weight
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Infant, Newborn
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Pregnancy
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Pregnancy Complications, Hematologic*
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Splenomegaly / etiology
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Trisomy
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beta-Glucosidase / deficiency