Hajdu-cheney syndrome. A report on successful halting of acro-osteolysis

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

doi:10.2106/JBJS.CC.20.00711

Hajdu-cheney syndrome. A report on successful halting of acro-osteolysis

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

Research output: Contribution to journal › Article › peer-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 language	English (US)
Article number	e20.00711
Journal	JBJS Case Connector
Volume	11
Issue number	2
DOIs	https://doi.org/10.2106/JBJS.CC.20.00711
State	Published - May 21 2021
Externally published	Yes

Keywords

Bisphosphonates
Hajdu-Cheney
Osteolysis
Polycystic kidneys

ASJC Scopus subject areas

General Medicine

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10.2106/JBJS.CC.20.00711

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title = "Hajdu-cheney syndrome. A report on successful halting of acro-osteolysis",

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.",

keywords = "Bisphosphonates, Hajdu-Cheney, Osteolysis, Polycystic kidneys",

author = "Gopinath Duraiswamy and Munis Ashraf and Sambandam, {Senthil Nathan} and Saseendar Shanmugasundaram",

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AU - Ashraf, Munis

AU - Sambandam, Senthil Nathan

AU - Shanmugasundaram, Saseendar

PY - 2021/5/21

Y1 - 2021/5/21

N2 - 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.

AB - 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.

KW - Bisphosphonates

KW - Hajdu-Cheney

KW - Osteolysis

KW - Polycystic kidneys

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Hajdu-cheney syndrome. A report on successful halting of acro-osteolysis

Abstract

Keywords

ASJC Scopus subject areas

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