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Abnormal Prenatal Sonographic findings in Two Cases of Zellweger Syndrome

Park SJ, Oh JY, Jung E, Kim SK, Shim JY, Won HS, Lee PR, Kim A

  • KMID: 1876152
  • Korean J Perinatol.
  • 2005 Mar;16(1):54-59.
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...
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Zellweger Syndrome : First Confirmed Neonatal Case in Korea

Kim SS, An YH, Chang YS, Jin DK, Park WS, Lee MH, Kim JW, Yoon HK, Kim BK

  • KMID: 1606284
  • J Korean Pediatr Soc.
  • 2001 Jun;44(6):694-698.
We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked...
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