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

Gopinath Duraiswamy, Munis Ashraf, Senthil Nathan Sambandam, Saseendar Shanmugasundaram

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
JournalJBJS Case Connector
Volume11
Issue number2
DOIs
StatePublished - May 21 2021
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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