Bone Abstracts

Objectives: To ascertain if parents and consultants at secondary care level hospitals felt there were areas that the Clinical Nurse Specialists (CNS), working with children and families with Osteogenesis Imperfecta (OI) could improve upon within their service, and to gain feedback on the current service provided.Methods: A SurveyMonkey© questionnaire was created through the audit team at Great Ormond Street Hospital and the Paediatric Ost...

Objectives: To examine the usefulness of Lego® as a visual reinforcer to explain genetic mutations to parents and carers of children and young people who have osteogenesis imperfecta (OI).Methods: Before entering a dedicated OI clinic, patients and carers completed a quantitative questionnaire devised by one of the team (MR), asking how much they knew about the genetic mutations causing OI within their families and whether they wished for a more det...

Background: Osteogenesis imperfecta (OI) type 15 is a rare autosomal recessive form caused by WNT1 mutations. In addition to bone fragility it may be associated with neurological impairment. We report a unique case of OI type 15 in a child with uniparental isodisomy for chromosome 12 who also has von Willebrand disease type 2N, congenital ptosis, early onset scoliosis and a movement disorder.Presenting Problem: A female infant was delivered normally at 4...