Biology of the Neonate · 2009 · 21 citations · 0 references
MedicinePathologyPediatricsPediatric GeneticsCongenital Genitourinary AnomaliesAutosomal Recessive InheritanceZellweger Spectrum DisordersZellweger Syndrome
Four infants with the clinical and pathological findings of the cerebro-hepato-renal syndrome of Zellweger are reported. They were the children of two sets of parents who were healthy and unrelated. In each family the occurrence of one affected sibling of each sex adds further evidence to the autosomal recessive nature of this disorder.