Hajdu-Cheney Syndrome: A Report on Successful Halting of Acro-osteolysis

JBJS Case Connect. 2021 May 21;11(2). doi: 10.2106/JBJS.CC.20.00711.


Case: The phenomenon of acro-osteolysis often intrigues clinicians and patients alike, as it causes bone resorption. One such condition is Hajdu-Cheney syndrome. We report our experience in identifying and halting the active bone resorption in a patient and his father with 2-year follow-up results.

Conclusion: Management included identification of the NOTCH2 mutation and treatment with antiresorptive measures. In addition, genetic counseling and antenatal counseling are recommended to explain the risk of inheritance.

MeSH terms

  • Acro-Osteolysis* / diagnostic imaging
  • Acro-Osteolysis* / genetics
  • Bone Resorption* / complications
  • Female
  • Hajdu-Cheney Syndrome* / complications
  • Hajdu-Cheney Syndrome* / diagnostic imaging
  • Hajdu-Cheney Syndrome* / genetics
  • Humans
  • Mutation
  • Pregnancy