Hajdu-Cheney Syndrome: A Report on Successful Halting of Acro-osteolysis.
| Autor: | Duraiswamy G; Department of Orthopaedic Surgery, Consultant Orthopaedic Surgeon, Dr. Rela Institute and Medical Center, Chennai, India., Ashraf M; Fellow in Arthroscopy and Sports Medicine, Senior Registrar, Ortho One Hospital, Coimbatore, India., Sambandam SN; Consultant Orthopaedic Surgeon, Department of Orthopaedic Surgery, Boston VA Medical center, Boston, Massachusetts., Shanmugasundaram S; Consultant Shoulder and Knee Arthroscopy Surgeon, Apollo Hospital, Muscat, Sultanate of Oman. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | JBJS case connector [JBJS Case Connect] 2021 May 21; Vol. 11 (2). Date of Electronic Publication: 2021 May 21. |
| DOI: | e20.00711 |
| Abstrakt: | 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. Competing Interests: Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B490). (Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|