European Journal of Pediatrics

, Volume 154, Issue 10, pp 835–839 | Cite as

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

  • M. Di Rocco
  • F. Callea
  • B. Pollice
  • M. Faraci
  • F. Campiani
  • C. Borrone
Medical Genetics Original Paper


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 consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.

Key words

Neurogenic arthrogryposis Parenchymal giant cell transformation Pigmentary liver disease Ductopenia Renal tubulopathy 



arthrogryposis, renal dysfunction and cholestasis


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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • M. Di Rocco
    • 1
  • F. Callea
    • 2
  • B. Pollice
    • 3
  • M. Faraci
    • 1
  • F. Campiani
    • 4
  • C. Borrone
    • 1
  1. 1.Divisione Pediatria IIIstituto “G. Gaslini”GenovaItaly
  2. 2.Servizio Anatomia Patologica Ospedali RiunitiBresciaItaly
  3. 3.I Anatomia PatologicaPoliclinico BariItaly
  4. 4.Patologia Neonatale Policlinico “S. Matteo”PaviaItaly

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