Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p51 | (1) | ICCBH2013

Mild visual impairment in a 13-year-old child with osteoporosis-pseudoglioma syndrome

Cheung Moira , Brain Caroline , Allgrove Jeremy

Background: Osteoporosis-pseudoglioma (OPPG) syndrome is an autosomal recessive disorder characterised by severe juvenile osteoporosis and congenital or infancy-onset visual loss. OPPG is caused by loss of function mutations in LDL receptor-related protein 5 (LRP5) gene. We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss.Presenting problem/clinical management: This child presented with multiple low...

ba0002p57 | (1) | ICCBH2013

Heterozygous mutation in GALNT3 in a case of hyperphosphataemic familial tumoral calcinosis

Knight Katie , Cheung Moira , Allgrove Jeremy

Background: Hyperphosphataemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive condition in which increased renal phosphate reabsorption is associated with elevated serum phosphate, inappropriately normal or raised PTH and extraosseous calcification. It is caused by mutations in genes related to phosphate metabolism: fibroblast growth factor 23 (FGF23), UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactos...

ba0002op1 | (1) | ICCBH2013

Skeletal effects of hypothyroidism are mediated by thyroid hormone receptor α

Cheung Moira , Boyde Alan , Evans Holly , Bassett Duncan , Williams Graham

Childhood hypothyroidism results in delayed skeletal maturation and impaired growth. Thyroid hormones act via temporo-spatially regulated thyroid hormone receptors α (TRα) and (TRβ).In the skeleton, TRα is the predominant receptor and we hypothesise that the skeletal effects of hypothyroidism are mediated by TRα.To investigate this we assessed the response of wild-type (WT), TRα knockout (TRα...

ba0002p197 | (1) | ICCBH2013

Parathyroid hormone administered by continuous s.c. infusion is more effective than when given by intermittent injection

Cheung Moira , Buck Jackie , Brain Caroline , Allgrove Jeremy

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria.We report our experience with such a patient w...

ba0004p46 | (1) | ICCBH2015

Evaluation of the use of a dynamic elastomeric fabric orthosis to improve truncal stability in a young child with osteogenesis imperfecta

Edwards Karen , Hupin Emilie , Cheung Moira , DeVile Catherine

Osteogenesis imperfecta (OI) is most commonly caused by a defect in the gene that produces type I collagen. Features include fractures and ligamentous laxity. Reduced muscle tone is often seen, which can result in gross motor delay in younger children.Dynamic elastomeric fabric orthoses (DEFOs or lycra garments) are widely used in children with low truncal muscle tone, have been shown to improve posture, and increase stability. There is no research in th...

ba0004p48 | (1) | ICCBH2015

Bone mineral density, vertebral compression fractures and pubertal delay in patients with autosomal recessive epidermolysis bullosa

Cheung Moira , Bozorgi Niloofar , Mellerio Jemima , Fewtrell Mary , Allgrove Jeremy , Brain Caroline , Martinez Anna

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

ba0004p174 | (1) | ICCBH2015

Case report of reversible cardiomyopathy secondary to 1 alpha hydroxylase deficiency

Cheung Moira , Braha Nirit , Beck-Nielsen Signe , Brain Caroline , Allgrove Jeremy

Background: Dilated cardiomyopathy is the leading cardiac cause of death in children. Treatment options include heart transplantation. Reversible causes are rare but hypocalcaemia secondary to vitamin D deficiency is a recognised cause and presents during infancy in at risk populations. Risk factors include babies who were breast fed, dark skinned and from mothers with vitamin D deficiency. We present an unusual case of vitamin D replete, hypocalcaemic cardiomyopathy secondary...

ba0006p198 | (1) | ICCBH2017

Hearing the patient's voice: a focus group listening to the child and parent experiences of living with rare bone diseases

Massey Jill , Phillips Katie , Cornish Michael , Lawson Caron , Irving Melita , Cheung Moira

Objectives: • To establish the child and family experience of attending multi-disciplinary clinics within the rare bone disease service at Evelina London Children’s Hospital.• To gain an understanding of the daily challenges the children, young people and families face.• To understand how the tertiary multi-disciplinary team may support the child, young person and family.<p class="ab...

ba0007p221 | (1) | ICCBH2019

Speech and hearing impairment and respiratory complications in a large cohort of patients with Achondroplasia

Cocca Alessandra , Irving Melita , Gringras Paul , Turcu Simona , Cheung Moira S

Objectives: Respiratory and Ear, Nose and Throat (ENT) complications are commonly reported in children with achondroplasia but little data is available regarding prevalence and outcome. In an unselected cohort of children with achondroplasia, we studied the prevalence of:•Abnormal cardiorespiratory sleep studies•Speech and hearing impairment</ce:p...

ba0007p74 | (1) | ICCBH2019

Burosumab can improve pain and quality of life for children with X-linked hypophosphataemia and their families: a London centre's experience

Gilbey-Cross Robyn , Sandy Jessica L , Morris Mavali , Cocca Alessandra , Sakka Sophia D , Massey Jill , Cheung Moira S

Objectives: Burosumab, a monoclonal antibody that therapeutically targets the underlying elevated levels of fibroblast growth factor 23 (FGF23) in X-linked hypophosphatemia (XLH), is now available to children out of trial conditions. Our objective was to describe the effect of burosumab on quality of life, functionality and pain in a clinical setting.Methods: Questionnaire tools were completed at baseline, 6 and 9 months for 9 children with XLH starting ...