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The evaluation of infants with the Zellweger (cerebro‐hepato‐renal) syndrome *
Author(s) -
Gilchrist Kennedy W.,
Gilbert Enid F.,
Shahidi Nasrollah T.,
Opitz John M.
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb00350.x
Subject(s) - zellweger syndrome , guideline , medicine , cerebro , pediatrics , prune belly syndrome , pathology , intensive care medicine , endocrinology , urinary system , peroxisome , receptor
A brief overview of the clinicopathologic findings in the cerebro‐hepato‐renal syndrome of Zellweger (ZS) is presented. In order to understand more clearly the many diverse features of the ZS condition, a guideline is suggested for evaluation of a ZS infant in terms of physical features, family history, clinical pathophysiologic parameters, biopsy specimens, and postmortem procedures. The references provide rationale pertinent to the subject of discussion and/or furnish comments upon technical aspects for performance of analytical procedures.