Prenatal Diagnosis of Zellweger Syndrome: Case Report
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 dysmo...
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Medical Network
2013-04-01
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| Series: | Gynecology Obstetrics & Reproductive Medicine |
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| Online Access: | https://gorm.com.tr/index.php/GORM/article/view/177 |
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| author | Bilgin Kütükcü Meral Topçu Sinan Beksaç Ronald J. Wanders |
| author_facet | Bilgin Kütükcü Meral Topçu Sinan Beksaç Ronald J. Wanders |
| author_sort | Bilgin Kütükcü |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-a2824bbd3d81432a8511e0b8722d9201 |
| institution | Kabale University |
| issn | 1300-4751 2602-4918 |
| language | English |
| publishDate | 2013-04-01 |
| publisher | Medical Network |
| record_format | Article |
| series | Gynecology Obstetrics & Reproductive Medicine |
| spelling | doaj-art-a2824bbd3d81432a8511e0b8722d92012025-02-11T21:20:09ZengMedical NetworkGynecology Obstetrics & Reproductive Medicine1300-47512602-49182013-04-01191116Prenatal Diagnosis of Zellweger Syndrome: Case ReportBilgin Kütükcü0Meral Topçu1Sinan Beksaç2Ronald J. Wanders3Ministry of Justice Council of Forensic Medicine Department of Biology, AnkaraDepartment of Pediatric Neurology Hacettepe University Faculty of Medicine, AnkaraDepartment of Obstetrics and Gynecology Hacettepe University Faculty of Medicine, AnkaraDepartment of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, Laboratory of Genetic Metabolic Diseases, Amsterdam 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. https://gorm.com.tr/index.php/GORM/article/view/177Zellweger syndromeDHAPATPrenatal diagnosisPeroxisomal disordersPEX gene |
| spellingShingle | Bilgin Kütükcü Meral Topçu Sinan Beksaç Ronald J. Wanders Prenatal Diagnosis of Zellweger Syndrome: Case Report Gynecology Obstetrics & Reproductive Medicine Zellweger syndrome DHAPAT Prenatal diagnosis Peroxisomal disorders PEX gene |
| title | Prenatal Diagnosis of Zellweger Syndrome: Case Report |
| title_full | Prenatal Diagnosis of Zellweger Syndrome: Case Report |
| title_fullStr | Prenatal Diagnosis of Zellweger Syndrome: Case Report |
| title_full_unstemmed | Prenatal Diagnosis of Zellweger Syndrome: Case Report |
| title_short | Prenatal Diagnosis of Zellweger Syndrome: Case Report |
| title_sort | prenatal diagnosis of zellweger syndrome case report |
| topic | Zellweger syndrome DHAPAT Prenatal diagnosis Peroxisomal disorders PEX gene |
| url | https://gorm.com.tr/index.php/GORM/article/view/177 |
| work_keys_str_mv | AT bilginkutukcu prenataldiagnosisofzellwegersyndromecasereport AT meraltopcu prenataldiagnosisofzellwegersyndromecasereport AT sinanbeksac prenataldiagnosisofzellwegersyndromecasereport AT ronaldjwanders prenataldiagnosisofzellwegersyndromecasereport |