Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families

  title={Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families},
  author={Maja di Rocco and Francesco Callea and B. Pollice and Maura Faraci and F. Campiani and Carla Borrone},
  journal={European Journal of Pediatrics},
We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease. We propose to… CONTINUE READING

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