Bone Abstracts

Introduction: Cranialfacial fibrous dysplasia (CFD) presents with pain, facial asymmetry and/or neurological complications. It has been suggested that patients with CFD respond favourably to treatment with bisphosphonates, by a decrease in pain and arrest of progression. Therefore, we performed a retrospective study of 56 patients with CFD in our center.Methods: We assessed clinical characteristics and disease course. Furthermore, clinical and biochemica...

Osteogenesis Imperfecta (OI) is a genetic condition which alters collagen biosynthesis(1). Prevalence is estimated at 1 in every 15, 000 births. It is a disorder with a wide spectrum of severity, with cases ranging from the extremely mild to those of perinatal mortality. Typical features include bone fragility; short stature; long bone deformity and persistent blue sclera(2). Although currently there is no cure for OI, with the input of a multidisciplinar...

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Background: The Ketogenic Diet Treatment (KDT) is a well-established intervention for intractable childhood epilepsy and the first choice treatment for Gluccose-1-transporter-deficiency-syndrome and Pyruvate-dehydrogenase-complex deficiency. During long-term follow up of children treated with KDT an increased incidence of bone fractures has been found. However, the exact contribution of KDT to a decreased BMD remains unclear. Prophylactic supplementation with calcium and vitam...

Objective: Optimal intakes of calcium and milk are necessary in children and adolescents to facilitate not only mineralization but also growth in stature. Low intakes of calcium and also, of milk and milk products in Indian children have been reported. Hence, the objective was to study Indian children’s growth with respect to their calcium and dairy intakes.Methods: We studied 220 children (boys 104, age range 2–16 years). Data on their height,...

Introduction: Osteopenia is a well-known complication of anorexia nervosa (AN) in older adolescents and adults, especially in those with a long duration of the disease and a severe underweight.Aim: We investigated whether young premenarchal girls with AN have similar risk factors for a disturbed bone growth and mineralization.Methods: Twenty-four female premenarchal AN patients as well as 24 age and height matched female controls u...

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Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Objective: To assess the relationship between thyrotoxicosis and osteoporotic fractures in men and women.Design: Register-based cohort study in patients with a TSH measurement in the region of Funen 1996–2010. All determinations were done in the same lab serving all hospitals and GP practices. Persons with raised TSH or a history of thyroid/pituitary disease were not included.Results: The study population consisted of 222 138 ...