International Journal of Anatomy and Research



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Type of Article : Case Report

Year: 2015 | Volume 3 | Issue 1 | Page No. 878-883

Date of Publication: 28-02-2015

DOI: http://dx.doi.org/10.16965/ijar.2015.107


BRITTLE BONES, UNBREAKABLE SPIRIT: OSTEOGENESIS IMPERFECTA: A CASE REPORT

Subhra Mandal *1, Prabir Mandal 2, Panchanan Kundu 3.

*1 Associate Professor, Dept. of Anatomy, Medical College Kolkata, West Bengal, India.
2 Post Graduate Resident in DNB (PMR), S.N.P. Hospital , Kolkata , West Bengal, India.

Address: Dr. Subhra Mandal, Associate Professor, Dept. of Anatomy, Medical College Kolkata, West Bengal , India. Contact No.: +919477458100
E-Mail: drsuvramandal@gmail.com

Abstract

Osteogenesis imperfecta (OI, Fragilitis Ossium or Brittle bone disease) is a group of rare inherited disorders with a broad spectrum of clinical and genetic variability. It is characterized by fragile bones that are prone to fracture often from mild trauma or with no apparent cause. People with OI are born with defective connective tissue or without the ability to make it, usually because of a deficiency of Type1 collagen. Incidence of OI is estimated to be one per twenty thousand live births. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes. We have reported a special case of OI, probably belonging to Type III group. The subject visited the PMR (Physical Medicine & Rehabilitation) OPD of Bankura Sammilani medical college (BSMC), Bankura ,West Bengal, India.. The details of etiology, diagnosis, genetic causes and treatment will be discussed in the study. Diagnosis of  OI is based on clinical features and may be confirmed by collagen or DNA testing. There is no cure for OI. Our management is aimed at increasing over all bone strength to prevent fracture and maintain mobility. Nevertheless, life style modifications by adaptive equipments, oral drugs (Bisphosphonates) and Intramedullary rod insertions, provide a significant degree of autonomy to OI patients.
KEY WORDS: Osteogenesis imperfecta (OI), Collagen, Mutations, Bisphosphonates, Intramedullary rod insertions.

References

  1. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363(9418):1377-85.
  2. Oakely I, and Reece L. (2010). Anesthetic implications for the patients with osteogenesis imperfecta. AANA Journal 2010;78(1):47-53.
  3. Sillence D. O., Senn A., Danks D. M. Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 1979;16:101-116. 
  4. Niyibizi, C., et al. Potential of gene therapy for treating osteogenesis imperfecta." Clinical Orthopedics 2000; 379.
  5. Darwin J P and John F B. Osteogenesis imperfecta. Harrison’s Principle of Internal Medicine  Vol-2, 18th edition p3207-3209 (2012).
  6. Rabiee, M, and Etemadi, M. Osteogenesis imperfecta in pregnancy; Case report. Journal of Family and Reproductive Health 2011;5(1):31-33.
  7. Cundy,T. Recent advances in osteogenesis imperfecta. Calcified tissue International 2012;90(60):439-449. doi: 10.1007/s00223-012-9588-3.
  8. Borland S & Gaffey A. Congenital and metabolic disorders leading to fracture. Trauma 2012;14 (3):243-256.
  9. Shapiro,J  et al. Hearing loss in osteogenesis imperfecta: Characteristics and treatment considerations. Genetics Research International 2011;1-6.
  10. LoMauro, A. et al. Rib cage deformities alter respiratory muscle action and chest wall function in patients with osteogenesis imperfecta.Plos ONE 2012;7(4),1-8, doi:10.1371/0035965.
  11. Suresh S S  & Thomas J.K. Metaphyseal bands in osteogenesis imperfecta.Indian Journal of Radiology and Imaging 2010;20(1):42-44. doi:10.4103/0971.
  12. Forin V. Paediatric osteogenesis imperfecta: medical and physical treatment. Arch Pediatr. Jun 2008;15(5):792-3.
  13. Nicolao N , Bowe J , Wilkinson J and Bell M.J. Use of the Sheffield Telescopic Intramedullary Rod System for the management of osteogenesis imperfecta. Journal of Bone and Joint Surgery, American 2011;93-A (21):1994-2000.

 

Subhra Mandal, Prabir Mandal, Panchanan Kundu. BRITTLE BONES, UNBREAKABLE SPIRIT: OSTEOGENESIS IMPERFECTA: A CASE REPORT. Int J Anat Res 2015;3(1):878-883. DOI: 10.16965/ijar.2015.107

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