Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p213 | (1) | ICCBH2019

Evaluating a therapy-led school and nursery outreach service for children with Osteogenesis Imperfecta

Bultitude Alex , Hupin Emilie , DeVile Catherine

Objective: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include easy fracturing, short stature, hypermobility, weakness and fatigue. Our experience is that including a child with OI within a school or nursery environment can cause anxiety for both carers and staff. Questions often arise regarding how to promote participation whilst maintaining a childÂ’s safety. Keeping up with the curriculum ca...

ba0007p117 | (1) | ICCBH2019

Use of Lego® to explain genetic variations in type 1 collagen – a pilot study

Allgrove Jeremy , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Riddington Megan , Bultitude Alex , Crowe Belinda , DeVile Catherine

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...

ba0007p45 | (1) | ICCBH2019

Osteogenesis imperfecta type 15 with neurological phenotype associated with homozygous WNT1 mutation and uniparental isodisomy for chromosome 12

Crowe Belinda , Heathfield Mark , Edwards Karen , Clark Chris , Hupin Emilie , Bultitude Alex , Calder Alistair , Lees Melissa , Liesner Ri , Allgrove Jeremy , DeVile Catherine

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...