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KMID : 0361720050160010054
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Korean Journal of perinatology
2005 Volume.16 No. 1 p.54 ~ p.59
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Abnormal Prenatal Sonographic findings in Two Cases of Zellweger Syndrome.
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Park Sun-Jung
Oh Jee-Young
Jung Eui
Kim Sun-Kwon
Shim Jae-Yoon
Won Hye-Sung
Lee Pil-Ryang
Kim Ahm
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Abstract
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Zellweger syndrome is a lethal autosomal recessive disorder characterized by neonatal hypotonia, neonatal seizure, psychomotor retardation, facial dysmorphism, and hepatomegaly. It is characterized by an absence or marked decrease of the number of peroxisomes. Children with Zellweger syndrome rarely survive their first year of life. Diagnosis depends on demonstration of elevated very long chain fatty acid in plasma and deficient activity of the peroxisomal enzyme. Chorionic villi sampling or the biochemical analysis of amniocytes makes it possible to identify a fetus affected by Zellweger syndrome during the first trimester of pregnancy. We experienced two cases of postnatally diagnosed Zellweger syndrome with mild sonographic abnormalities prenatally and report our cases with a brief review of literature.
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KEYWORD
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Zellweger syndrome, Prenatal sonographic abnormalities, Chorinic villi sampling
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