title: Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.
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.
authors.affiliation: Department of Obstetrics/Gynecology, King Faisal Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: M
authors.initials: M
authors.lastname: Stangenberg
authors.forename: G
authors.initials: G
authors.lastname: Lingman
authors.forename: G
authors.initials: G
authors.lastname: Roberts
authors.forename: P
authors.initials: P
authors.lastname: Ozand
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D005865:Gestational Age; D005966:Glucuronidase / Q000172:deficiency; D006801:Humans; D015160:Hydrops Fetalis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D016538:Mucopolysaccharidosis VII / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy
chemical_list: D005966:Glucuronidase