JBJS case connector · 2021
Hajdu-Cheney Syndrome: A Report on Successful Halting of Acro-osteolysis.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Duraiswamy Gopinath, Ashraf Munis, Sambandam Senthil Nathan, Shanmugasundaram Saseendar
Аннотация
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.
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.