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Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

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Abstract

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, peristent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.

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Authors and Affiliations

  1. The Department of Pathology, University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin

    Kennedy W. Gilchrist, Enid F. Gilbert & Stanley Goldfarb

  2. The Department of Pediatrics, University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin

    Enid F. Gilbert & John M. Opitz

  3. the Wisconsin Clinical Genetics Center of the Department of Medical Genetics, University of Wisconsin Center for Health Sciences and Medical School, 53706, Madison, Wisconsin

    John M. Opitz

  4. Children's Hospital, University of Kiel, Kiel

    U. Goll

  5. the Department of Pediatrics, University of Mainz, Mainz

    Jurgen W. Spranger

Authors
  1. Kennedy W. Gilchrist
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  2. Enid F. Gilbert
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  3. Stanley Goldfarb
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  4. U. Goll
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  5. Jurgen W. Spranger
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  6. John M. Opitz
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Additional information

Supported in part by American Cancer Society Junior Faculty Clinical Fellowship 237A and USPH/NIH Grants GM 20130, GM 15422 and 5 K04 HD 18982. Submitted in part as Paper No. 1881 from the University of Wisconsin Genetics Laboratory.

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Gilchrist, K.W., Gilbert, E.F., Goldfarb, S. et al. Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology. Eur J Pediatr 121, 99–118 (1976). https://doi.org/10.1007/BF00443065

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  • DOI: https://doi.org/10.1007/BF00443065

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