Document Detail

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.
MedLine Citation:
PMID:  8151641     Owner:  NLM     Status:  MEDLINE    
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.
S P Horslen; O W Quarrell; M S Tanner
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Review    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-05-10     Completed Date:  1994-05-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  62-4     Citation Subset:  IM    
Department of Paediatrics, Sheffield Children's Hospital, UK.
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MeSH Terms
Abnormalities, Multiple / pathology*
Arthrogryposis / pathology*
Cholestasis / pathology*
Infant, Newborn
Kidney Diseases / pathology*
Liver / pathology*
Comment In:
J Med Genet. 1994 Oct;31(10):820   [PMID:  7837262 ]

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