6533b854fe1ef96bd12ae12e
RESEARCH PRODUCT
Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology
Jürgen W. SprangerKennedy W. GilchristEnid F. GilbertStanley GoldfarbJohn M. OpitzU. Gollsubject
Heart Defects CongenitalLiver CirrhosisMalePathologymedicine.medical_specialtySiderosisCirrhosisRenal cortical cystsPancreatic islet hyperplasiaIronKidneyNeurologic ManifestationsPulmonary hypoplasiaMaldevelopmentFibrosisHumansMedicineAbnormalities MultipleRadiology Nuclear Medicine and imagingbusiness.industryInfant NewbornBrainInfantGeneral MedicineKidney Diseases Cysticmedicine.diseaseBile Ducts IntrahepaticNeonatal hypotoniaLiverConnective TissuePediatrics Perinatology and Child HealthFemaleHepatic fibrosisbusinessHepatomegalydescription
A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1976-01-02 | European Journal of Pediatrics |