ESPE Abstracts

Osteogenesis imperfecta (OI) is a hereditary disease characterized by skeletal findings like increased fracture rate, deformed long bones and vertebral compression fractures. Non-skeletal findings include hypermobility of joint, hearing and dental impairments and weakness of collagen involving structures like vessels and valves. Therapy is based on an interdisciplinary approach including orthopaedic surgery to correct deformities, physiotherapy to increase musclefunction and p...

Background: Osteogenesis imperfecta is a rare collagen related hereditary disease leading to recurrent fractures, reduced mobility, muscular weakness and short stature.Objective and hypotheses: It was always discussed if the reduced height is a consequence of the impaired collagen production, a reaction of the body to the brittleness of bones or if the patient might suffer from an additional deficiency of growth hormone (GH).Method...

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is one of the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone...

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...

Background: Osteogenesis imperfecta (OI) is a rare disease leading to an increased bone fragility due to a reduced bone mass. Pathological fractures are the most severe symptom. More than 85% of patients are affected by mutations in COL1A1/A2 impairing quantity and quality of collagen. No approved drugs for OI treatment in childhood are available.Objective and hypotheses: A prospective pilot study was performed to assess safety and effi...