American journal of medical genetics 1992-Sep
Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.
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Abstract
We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as beta-glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. beta-Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal.