prenatal diagnosis of zellweger syndrome: case report

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ID: 235994
2016
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Abstract
Zellweger syndrome (ZS) (Cerebro-Hepato-Renal syndrome) is a rare autosomal recessive disorder characterized by an absence or marked decrease in peroxisomes, resulting in profound muscular hypotonia and death in the neonatal period. The clinical presentation of ZS is dominated by craniofacial dysmorphic features, neurological abnormalities, hepatomegaly, and chondrodysplasia punctata. Prenatal diagnosis is possible by analysis of dihydroxyacetone-phosphate acyltransferase (DHAPAT) activity, which catalyzes the first step in the biosynthesis of ether-phospholipids, in chorionic villi or amniotic fluid cells. We report the prenatal diagnosis of three pregnancies of a mother who had lost two children previously due to ZS.
Reference Key
ktkc2016gormprenatal Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Bilgin Kütükcü;Meral Topçu;Sinan Beksaç;Ronald J. Wanders
Journal journal of veterinary research
Year 2016
DOI
DOI not found
URL
http://gorm.com.tr/index.php/GORM/article/view/177
Keywords
pex genemedicinegynecology and obstetrics

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