Osteogenesis imperfecta type 111
DOI:
https://doi.org/10.18203/2349-3291.ijcp20160174Keywords:
Osteogenesis imperfecta type III, Recurrent fractures, BisphosphonatesAbstract
Osteogenesis Imperfecta is a rare inherited disorder affecting connective tissue integrity, characterized by bone fragility of varying severity ranging from lethal forms to those with very minimal features. Here, we are presenting a case of 3 months old infant with multiple fractures sustained during routine handling .Baby was diagnosed as OI type III, which is the most severe non-lethal form of the disease. Early diagnosis and institution of new modalities of treatments like bisphosphonates and surgical stabilization gives better prognosis in these patients.Metrics
References
Marini JC. Osteogenesis imperfecta. In: Nelson WE, Behrman RE, Kliegman RM, Arvin AM, editors.Nelson Textbook of Pediatrics. 18th ed. Philadelphia: W.B. Saunders Company; 2007:2887–90.
Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. Gene Reviews. 1993-2015.2005 Jan 28 [updated 2013 Feb 14].
Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26(3):666-72.
Starman BJ, Eyre D. Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest. 1989;84(4):1206-14.
Oakley I, Reece L. Anesthetic implications for the patient with osteogenesis mperfecta. AANA Journal. 2010;78(1):47-53.
Beattie ML, Kim JW, Gong SG, Murdoch-Kinch CA, Simmer JP, Hu JC. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006;85(4):329-33.
Pillion JP, Vernick D, Shapiro J. Hearing loss in osteogenesis imperfecta: Characteristics and treatment considerations. Genetics Research International. 2011;2011:1-6.
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-6.
Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta - clinical and molecular diversity. European Cells and Materials .2003;5:41-7.
Obafemi AA, Bulas DI, Troendle J, Marini JC. Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. Am J Med Genet A. 2008;146A(21):2725-32.
Shaw NJ. Management of Osteoporosis in children. European Journal of Endocrinology. 2008;159:S33-9.
Nicolao N, Bowe J, Wilkinson J, Bell MJ. Use of the Sheffield Telescopic Intramedullary Rod System for the management of osteogenesis imperfecta. Journal of Bone and Joint Surgery American. 2011;93(21):1994-2000.
Van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, et al. Osteogenesis Imperfecta: A Review with Clinical Examples. Molecular syndromology.2011;2(1):1-20.
Downloads
Published
How to Cite
Issue
Section
