Bone Abstracts

Introduction: Achondroplasia, the commonest skeletal dysplasia, is caused by specific variant(s) in the fibroblast growth factor receptor 3 (FGFR3) gene that cause abnormal spine, skull and limb bone growth. Surgical indications for foramen magnum stenosis in this population vary widely in the literature.Methods: We performed a retrospective analysis of patients with achondroplasia aged >20 years (n=33) in our regional skeletal dysplasia cli...

Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...

Background: Hypercalcaemia is a risk following stem cell transplant (SCT) for all types of autosomal recessive osteopetrosis (ARO) due to restored osteoclast differentiation. This can be particularly severe in the osteoclast-poor (OP) form involving the tumour necrosis factor receptor superfamily 11A (TNFRSF11A) gene, encoding RANK. Denosumab, a monoclonal antibody blocking RANK activation, has been described for refractory post-SCT hypercalcaemia in two cases. Our case adds n...