| Literature DB >> 8151641 |
S P Horslen1, O W Quarrell, M S Tanner.
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.Entities:
Mesh:
Year: 1994 PMID: 8151641 PMCID: PMC1049602 DOI: 10.1136/jmg.31.1.62
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318