Hajdu–Cheney Syndrome, a Rare Cause of Acro‐Osteolysis and Osteoporosis With Zoledronic Acid Experience

Published on 01/10/2025

Reading time: 4 min.

Gonul Buyukyilmaz ¹, Mehmet Adiguzel ², Fatih Gurbuz ³, Esra Kılıc ⁴

¹ Department of Pediatric Endocrinology Ankara Bilkent City Hospital Ankara Turkey
² Department of Radiology Dr. Burhan Nalbantoğlu State Hospital Nicosia Cyprus
³ Department of Pediatric Endocrinology Ankara Yildirim Beyazit University Faculty of Medicine Ankara Turkey
⁴ Department of Pediatric Genetics University of Health Sciences, Ankara City Hospital Ankara Turkey

Abstract

Hajdu–Cheney syndrome (HCS), caused by a heterozygous gain of function variant of the NOTCH2 gene, is a rare skeletal dysplasia. Although the main presentation is acro‐osteolysis, osteoporosis, and facial dysmorphism, having a wide range of clinical manifestations creates diagnostic difficulties. Here, a 15‐year‐old male patient with HCS who had no complaints until this age except for two short bone fractures and one vertebral collapse fracture...

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American Journal of Medical Genetics

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