Long-term use of bisphosphonates has raised concerns about the association with Atypical Femur Fractures (AFFs) that have been reported mainly in postmenopausal women. We report a case of an 18-year-old patient with juvenile osteoporosis based on X-linked osteoporosis due to a PLS3 mutation who developed a low trauma femoral fracture after seven years of intravenous and two years of oral bispho...

Since our discovery in 2013 that genetic defects PLS3 lead to bone fragility, the mechanistic details of this process have remained obscure. It has been established variants cause syndromic and nonsyndromic osteoporosis as well osteoarthritis. codes for an actin-bundling protein with a broad pattern expression. As such, it is puzzling how specifically leads bone-related disease presentation. Ou...