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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Bone Density
• Share to Bone Density Conservation Agents