Bone Abstracts

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment</ce:p...

Objectives: Burosumab, a monoclonal antibody that therapeutically targets the underlying elevated levels of fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH), is now available to children out of trial conditions. Our objective was to describe the effect of burosumab on quality of life, functionality and pain in a clinical setting.Methods: Questionnaire tools were completed at baseline, 6 and 9 months for 9 children with XLH starting ...

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a ‘C shape’, as is...