Bone Abstracts

Background: X-linked hypophosphatemic rickets (XLH), the most common inherited rachitic disorder, is often misdiagnosed as nutritional rickets or physiologic bowing. Patients typically present in early childhood with progressive bowing deformities of the lower extremities and short stature, however may also develop craniosynostosis. Here we present a case of an adopted Caucasian male whose presentation of papilledema, craniosynostosis and hypophosphatemia eventually led to the...

Objectives: Spinal muscular atrophy (SMA) results in varying degrees of hypotonic immobility. Prior reports demonstrate an increased risk of fracture and a trend toward low bone mineral density (BMD) in this population. We aim to further characterize bone health in paediatric SMA patients by reporting the prevalence of fractures and low BMD (z-score≤−2.0) by SMA subtype, BMD of the lateral distal femur (LDF; an important fracture location in non-ambulatory...