Lethal osteogenesis imperfecta.

The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study

The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Tha...

Intrauterine Osteogenesis Imperfecta in Four Siblings.

Osteogenesis Imperfecta Due to Compound Heterozygosity for the LEPRE1 Gene

Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born t...

Identifying Complications in Distraction Osteogenesis

Benefits of Pamidronate Treatment in Osteogenesis Imperfecta

Received March 9, 2004 Abstract Osteogenesis imperfecta is a hereditary disorder of connective tissues characterised by low bone mass and bone fragility. Previous studies demonstrated that cyclical pamidronate therapy is effective in increasing bone density and improving clinical outcomes in children with osteogenesis imperfecta. We report our experience in treating two children with cyclical i...