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Zellweger's syndrome

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A rare hereditary disorder with onset in fetal life; prevalent in females. Feeble fetal activity; breech presentation prevalent. It is characterized by imperfect myelinisation of nerve tracts, microgyria, abnormal skull, mental and growth retardation, calcific deposits in long bones, craniofacial malformations, hypospadias, glaucoma, seizures, cataracts, cysts of the kidney, an enlarged liver, hyperbilirubineamia, extramedullary haemopoiesiss and hypotonia. Cardiac complications include patent ductus arteriosus and septal defects. The characteristic lesion is a lack or absence of perioxisomes in many tissues. Death within few weeks or months of life. Inheritance is autosomal recessive


  • P. Bowen, C. S. N. Lee, H. U. Zellweger, R. Lindenburg:
    A familial syndrome of multiple congenital defects.
    Bulletin of the Johns Hopkins Hospital, 1964, 114: 402.
    The authors described cases among siblings being Zellweger’s patients.
  • J. M. Opitz, et al:
    The Zellweger syndrome (cerebro-hepato-renal syndrome).
    Birth Defects Original Article Series, New York, 1969, 5 (2): 144-160.

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