Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta

We report a novel case of Snyder-Robinson syndrome, caused by a de novo mutation and first misdiagnosed with osteogenesis imperfecta. Clinical features, course, and genetic analysis are presented. The patient was treated with bisphosphonates for a decade, until developing an atypical femoral fracture. Teriparatide was then administered for 2  years and then changed to denosumab every 6 months, improving his bone density mass and preventing further fractures.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research