Sp. Horslen et al., LIVER HISTOLOGY IN THE ARTHROGRYPOSIS MULTIPLEX CONGENITA, RENAL DYSFUNCTION, AND CHOLESTASIS (ARC) SYNDROME - REPORT OF 3 NEW CASES AND REVIEW, Journal of Medical Genetics, 31(1), 1994, pp. 62-64
We report three cases from two unrelated families of infants with arth
rogryposis multiplex congenita, cholestatic jaundice, and renal Fancon
i's syndrome. In both families the parents were consanguineous. All th
ree children died by 7 months of age. This association was first repor
ted 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. Base
d on the histological findings in one of our cases we propose that all
cases described so far represent variation within a single syndrome.