Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology
KW Gilchrist, EF Gilbert, S Goldfarb, U Goll… - European Journal of …, 1976 - Springer
KW Gilchrist, EF Gilbert, S Goldfarb, U Goll, JW Spranger, JM Opitz
European Journal of Pediatrics, 1976•SpringerA 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.
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.
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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