Síndrome de Hajdu-Cheney como una causa rara de acroosteólisis: un informe de caso

diagnosis of HCS. The patient was treated with IV zoledronic acid every six months, along with calcium and vitamin D supplementation. This case illustrates the multisystem and highly variable presentation of HCS. The combination of characteristic skeletal, craniofacial, neurological, and cardiovascular features associated with a de novo NOTCH2 mutation broadens the clinical spectrum of this exceptionally rare disorder. Advances in understanding the role of Notch signaling may lead to targeted therapies in the future. Prognosis depends on the severity of systemic complications, particularly neurological involvement and