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J Med Genet. 1994 Jan;31(1):62-4.

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

Author information

1
Department of Paediatrics, Sheffield Children's Hospital, UK.

Abstract

We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome.

PMID:
8151641
PMCID:
PMC1049602
DOI:
10.1136/jmg.31.1.62
[Indexed for MEDLINE]
Free PMC Article

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