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J Med Genet. 1994 January; 31(1): 62–64.
PMCID: PMC1049602

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


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.

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Selected References

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  • Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM. Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. Helv Paediatr Acta. 1984 Dec;39(5-6):463–471. [PubMed]
  • Nezelof C, Dupart MC, Jaubert F, Eliachar E. A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. J Pediatr. 1979 Feb;94(2):258–260. [PubMed]
  • Di Rocco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, Cremonte M, Borrone C. Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. Am J Med Genet. 1990 Oct;37(2):237–240. [PubMed]
  • Saraiva JM, Lemos C, Gonçalves I, Carneiro F, Mota HC. Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. J Pediatr. 1990 Nov;117(5):761–763. [PubMed]

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