title: In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.
abstract: Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work-up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation. Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive lysosomal storage disease, caused by the deficiency of the enzyme beta-glucuronidase. The most severe form of MPS VII manifests itself by non-immune fetal hydrops. Tests for the diagnosis of metabolic disorders, especially lysosomal diseases, are essential when the major causes of hydrops fetalis have been excluded. The presence of a beta-glucosidase deficiency, Gaucher's disease, in the infant of the patient's sister emphasizes the importance of a complete family history in consanguineous couples and the risk for several recessive diseases in some families.
authors.affiliation: Department of Obstetrics & Gynaecology, University Hospital Rotterdam, The Netherlands.
authors.forename: N S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: E M
authors.initials: EM
authors.lastname: Schoonderwaldt
authors.forename: F J
authors.initials: FJ
authors.lastname: Los
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
mesh_terms: D000328:Adult; D003241:Consanguinity; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D016538:Mucopolysaccharidosis VII / Q000000981:diagnostic imaging*; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal