Cerebro-hepato-renal Syndrome of Zellweger

作者：James E. Jan · 发表于：Archives of Pediatrics and Adolescent Medicine · 年份：1970 · DOI：10.1001/archpedi.1970.02100050276020 · 被引用次数：36 · 研究领域：RNA regulation and disease、Peroxisome Proliferator-Activated Receptors、Folate and B Vitamins Research

In 1964, Bowen et al 1 described two siblings with congenital abnormalities including (1) marked hypotonia, (2) multiple renal cortical cysts, (3) glaucoma, (4) hepatomegaly, (5) hypoprothrombinemia, (6) developmental abnormalities of the brain, (7) congenital stippled epiphyses, and (8) a clinical appearance suggestive of Down's syndrome. Since the sibs in this family were Zellweger's patients, his name is now used for the designation of this syndrome. In the present paper two siblings are recorded who display similar clinical features. The purpose of this article is to show some other unusual features of this syndrome and to point out close similarities as well as differences between this condition and chondrodystrophia calcificans congenita (Conradi's disease). Report of Cases Case1.—This child was born on Aug 13, 1967, at term after a normal pregnancy, labor, and delivery, weighing 4,092 gm (9 lb). Her parents were healthy, unrelated Caucasians, with an unremarkable family history.