Cystic kidney disease in Hajdu-Cheney syndrome

Am J Med Genet. 1995 Mar 13;56(1):25-30. doi: 10.1002/ajmg.1320560108.


We report on 2 unrelated patients with Hajdu-Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasonographic changes similar to those of autosomal dominant polycystic kidney disease. Neither had a family history of Hajdu-Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu-Cheney syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Osteolysis, Essential / complications
  • Osteolysis, Essential / genetics*
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / genetics*