Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family

Am J Med Genet. 1990 Oct;37(2):237-40. doi: 10.1002/ajmg.1320370214.


We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / genetics*
  • Cholestasis
  • Consanguinity
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Kidney Diseases / genetics*
  • Kidney Diseases / pathology
  • Liver Diseases / genetics*
  • Liver Diseases / pathology
  • Male
  • Pedigree
  • Syndrome
  • X Chromosome