The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome.
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.
D001927:Brain Diseases / Q000151:congenital*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D007501:Iron / Q000378:metabolism; D008107:Liver Diseases / Q000151:congenital*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D007690:Polycystic Kidney Diseases / Q000151:congenital*; D013577:Syndrome
D007501:Iron