Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p104 | (1) | ICCBH2017

Dietary calcium deficiency contributes to the causation of nutritional rickets (NR) in the United Kingdom (UK): data from the British Paediatric Surveillance Unit (BPSU) NR survey

Zulf Mughal M. , Calder Alistair , Blair Mitch , Julies Priscilla , Pall Karina , Lynn Richard , McDonnell Ciara , McDevitt Helen , Shaw Nick J.

Background: Rickets is a disorder of the growing child arising from impaired mineralisation of the growth plate and osteoid. The most common cause of NR in the UK is thought to be secondary to vitamin D deficiency [VDD; serum 25-hydroxyvitamin D (25OHD) <25 nmol/l], although in some African & South Asian countries dietary calcium deficiency (DCaD) by itself, or together with VDD is an important cause of NR (Ann Trop Paediatr. 2006;26:1–16). Currently, the data on ...

ba0006p162 | (1) | ICCBH2017

Nutritional rickets presenting to secondary care in children (<16 years) -- A UK surveillance study

Julies Priscilla , Pall Karina , Lynn Richard , Calder Alistair , Mughal Zulf , Shaw Nicholas , McDonnell Ciara , McDevitt Helen , Blair Mitchell

Objectives: Rickets is a disease of growing children with potentially serious short and long-term complications. The United Kingdom (UK) national incidence of Nutritional Rickets(NR) is unknown and thought to be increasing. This study aims to describe the incidence, presentation and clinical management of children with NR in the UK and Republic of Ireland.Methods: Data is being collected prospectively monthly between March 2015 and March 2017 from 3500 p...

ba0007p104 | (1) | ICCBH2019

Vitamin D deficiency nutritional rickets presenting to secondary care in children (<16 Years) – A United Kingdom surveillance study

Shaw Nick , Mughal Zulf , Julies Priscilla , Pall Karina , Lynn Richard , Leoni Marina , Calder Alistair , McDonnell Ciara , McDevitt Helen , Blair Mitch

Objectives: Nutritional Rickets (NR) is the commonest cause of rickets worldwide. Although the prevalence of rickets has been widely reported to be increasing, the actual national incidence of NR in the United Kingdom (UK) is unknown.Methods: Retrospective data were collected monthly between March 2015 and March 2017 from 3500 consultant paediatricians using British Paediatric Surveillance Unit (BPSU) reporting methodology. Clinicians completed an online...

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...