Linked Life Data

8831129

Source:http://linkedlifedata.com/resource/pubmed/id/8831129

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1996-12-17
pubmed:abstractText
Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. We describe a family case of beta-glucuronidase deficiency with 3 consecutively affected siblings. The three fetuses showed hydrops at a very early stage. In the first and second pregnancy the hydrops was visible on ultrasound scan in the first trimester. In the second pregnancy this was highly suggestive for recurrence. The diagnosis of mucopolysaccharidosis type VII was suggested after pathologic examination of the first fetus and placenta, and confirmed by deficient beta-glucuronidase activity in cultured skin fibroblasts. In the second, as well as in the third pregnancy a prenatal biochemical diagnosis was possible on cultured chorionic villus cells. The third pregnancy was terminated before hydrops was visible on ultrasound scan. Pathologic findings in the 3 fetuses were similar. Vacuolated macrophages were found in all tissues, but were most prominent in placenta, liver, lymph nodes and bone marrow.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1015-8146
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
105-12
pubmed:dateRevised
2006-7-6
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings.
pubmed:affiliation
Department of Pathology I, University Hospital St-Rafaël, Leuven, Belgium.
pubmed:publicationType
Journal Article, Case Reports