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January-March 2017 | Vol. 10 | Issue 1 | Page No 9-17
Osteogenesis Imperfecta: An Update
Vartika Giri, Priyanka Srivastava, Meenakshi Lallar and Shubha R Phadke*
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
Osteogenesis imperfecta (OI) is a rare, heritable systemic disorder of bone and connective tissue that has varying phenotypic heterogeneity -varying degree of bone fragility, blue sclerae, dentinogenesis imperfecta, short stature, scoliosis, and joint hyperextensibility. For decades only autosomal dominant forms caused by COL1A1 and COL1A2 genes were recognized. But since past decade with advancement in molecular technologies new genes have been identified leading to recognition of autosomal recessive OI. Currently there are around 17 genes for OI. The classification of OI thus is now based on genetic analysis. In the following review we aim to discuss the different types of OI, classification based on molecular basis, different genes causative of OI and their pathophysiology and mechanisms. An approach to a suspected case of OI, differentials and the most recent management and therapeutic options for OI are discussed.
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