Abstracts
Osteogenesis imperfecta is a rare autosomal dominant disorder of connective tissue origin predominantly affecting the skeletal tissue. It is characterized by bone fragility and low bone mass with a wide spectrum of clinical expression. With an estimated prevalence of 1 in 12,000 to 15,000 children, it has a broad clinical phenotype, ranging in severity from perinatal lethality to mild clinical forms without fractures.
Clinical evaluation involving thorough history is the foremost criterion which helps in diagnosis. A wide array of radiographic investigations, bone biopsy and genetic analyses help to confirm the diagnosis. The importance of childhood in terms of bone mass acquisition and spinal growth as well as the scope for dramatically improved outcomes with timely intervention all highlight the importance of accurate and prompt diagnosis of OI.
This review gives an update on the various classification systems, diagnostic methods and treatment options for the manifestations of this disorder.
Keywords : Osteogenesis imperfecta; bone disorders; type I collagen; bone fragility; brittle bone disease; Lobstein syndrome; fragilitas ossium.
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