Bone Abstracts

The ‘classical’ forms of osteogenesis imperfecta (OI) are those associated with the original Sillence classification of four types described in 1979. They account for 85–90% of all types of OI with the majority due to mutations in the genes for type 1 collagen, COL1A1 and COL1A2, and are usually dominantly inherited. They represent a significant spectrum of severity ranging from individuals with infrequent fractures, normal mobility and function to those with re...

Biographical DetailsDr Nick Shaw is a Consultant Paediatric Endocrinologist at Birmingham Children’s Hospital and Honorary Senior Clinical Lecturer at the University of Birmingham. He developed an interest in paediatric calcium and bone metabolism whilst a Lecturer at the University of Leeds in 1985 and subsequently as a Lecturer at the University of Liverpool. He completed his endoc...

Over the past two years we have continued to see new developments and findings in paediatric bone disease that will help change and modify our clinical practice. I have selected some pertinent publications and divided these into different themes that I intend to highlight in this presentation. These include:(1) New treatment options – Burosumab for X-linked Hypophosphataemic Rickets and Anti-Sclerostin antibody for Osteogenesis Imperfecta.<p cla...

Background: Case series show improved vertebral size and shape with intravenous bisphosphonate use in children with osteogenesis imperfecta (OI); however, two studies of risedronate showed no such improvement. We have re-examined the data from a dose-ranging risedronate study to determine whether other factors, in particular relating to body composition, contribute to vertebral shape in OI.Methods: We randomly assigned 53 children with moderate to severe...

Background: There is currently considerable clinical and academic interest in vitamin D in children and young people. This partly relates to recognition of a resurgence of symptomatic vitamin D deficiency with reports of children presenting with rickets or hypocalcaemic symptoms. An additional development has been the recognition that vitamin D may have a physiological extraskeletal role beyond its traditional function as a key regulator of calcium and bone metabolism.<p c...

Intravenous (IV) Pamidronate (PAM) has been used in the treatment of Osteogenesis Imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent IV Zoledronic acid (ZOL).Objectives: To determine the clinical efficacy of IV PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Methods: A retrospec...

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...

Objectives: XLH is a rare, genetic, inherited disorder characterised by low blood phosphate which leads to inadequate mineralisation of bone, resulting in a spectrum of skeletal and functional muscle abnormalities, abnormal tooth development, physical and functional impairments. Treatment with conventional therapy places a significant burden on patients and families; it can require complex treatment dosage schedules, is often poorly tolerated, and can be associated with seriou...

Introduction: Although previously babies with genetic type II Osteogenesis Imperfecta (OI) would not have expected to survive, they are now surviving beyond the neonatal period. We describe two such children who have survived beyond infancy.Aim & methods: To identify differences in motor developmental progress between a typical severe (type III) OI child vs two Type II OI children and suggest possible causes. Medical, nursing and therapy (physiothera...

Background and objectives: Fracture rate in Osteogenesis Imperfecta (OI) is highest between 0 and 19 years, and associated radiation exposure also carries the highest lifetime cancer risk. Here, we investigate the cumulative effective radiation dose (E) and lifetime cancer risk from diagnostic imaging in OI children. We also explore the hypothesis that negative family history of OI will increase injury-related, fracture-negative X-rays due to parental anxiety.<p class="abs...