Bone Abstracts

Introduction: In 1979 Sillence described Type II OI as perinatal lethal. We report two children whose features were consistent with Type II OI who survived beyond infancy. Both have mutations previously reported in cases of lethal OI.Case 1: This girl was born full term, small for gestational age (SGA) following antenatal detection of short bowed femora. Skeletal survey showed multiple long bone fractures and a small chest with beaded ribs. A COL1A2 gene...

Introduction: Hyperphosphatemic familial tumoral calcinosis is a rare genetic disorder causing reduced FGF23 activity. Recurrent and occasionally disabling subcutaneous calcifications are major disease manifestations. We describe the successful use of acetazolamide in two cases presenting in childhood with a homozygous GALNT3 mutation.Case 1: A five year old girl developed tender subcutaneous calcifications in the right elbow which were surgically resect...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We report relevant real-world biochemical data on children under five years ...

Objectives: X-linked hypophosphataemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. Real-world evidence is important in validating the findings of clinical studies. We...