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Objectives: Intravenous cyclical bisphosphonates are widely used to treat children with moderate to severe osteogenesis imperfecta (OI). They increase bone mineral density (BMD), diminish fracture rates and improve mobility. Bisphosphonates are often discontinued when growth is completed. We aimed to determine if the skeletal gains achieved with bisphosphonates persist after their discontinuation in patients with OI.Methods: We assessed patients with OI ...

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ba0004lb2 | (1) | ICCBH2015

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

Mendoza Roberto , Fahiminiya Somayyeh , Majewski Jacek , Consortium Care4Rare Canada , Tetreault Martine , Nadaf Javad , Kannu Peter , Sochett Etienne , Howard Andrew , Stimec Jennifer , Dupuis Lucie , Roschger Paul , Klaushofer Klaus , Palomo Telma , Ouellet Jean , Al-Jallad Hadil , Mort John , Moffatt Pierre , Boudko Sergei , Bachinger Hans-Peter , Rauch Frank

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...

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Bone Abstracts

Osteogenesis imperfecta: skeletal outcomes after bisphosphonates discontinuation at final height

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

BiosciAbstracts