Advertisement

Osteogenesis Imperfecta

  • Antonio Gonzalez FiolEmail author
Chapter

Abstract

Osteogenesis imperfecta (OI) is a rare congenital defect caused by mutations in one of the two genes (COL1A1 or COL1A2) that encode for type I collagen [1, 2]. However many other mutations in proteins involved in collagen processing and osteoblast function have been identified. Inheritance is autosomal dominant or recessive [2]. This type of collagen is structural and present in bones, dentin, sclera, ligaments, and tendons. Disease severity is highly variable depending on the penetration and expression of the defect.

Keywords

Brittle bone disease Dwarfism Anesthetic management of OI Collagen type I Scoliosis 

References

  1. 1.
    Parasuraman R, Taylor MJO, Liversedge H, Gilg J. Pregnancy management in type III maternal osteogenesis imperfecta. J Obstet Gynaecol. 2007;27(6):619–21.CrossRefGoogle Scholar
  2. 2.
    Yimgang DP, Shapiro JR. Pregnancy outcomes in women with osteogenesis imperfecta. J Matern Fetal Neonatal Med. 2015;3:1–5.CrossRefGoogle Scholar
  3. 3.
    Sharma A, George L, Erskin K. Osteogenesis imperfecta in pregnancy: two case reports and review of literature. Obstet Gynecol Surv. 2001;56(9):563–6.CrossRefGoogle Scholar
  4. 4.
    Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85.CrossRefGoogle Scholar
  5. 5.
    Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet. 2014;164(6):1470–81.CrossRefGoogle Scholar
  6. 6.
    Vogel TM, Ratner EF, Thomas RCJ, Chitkara U. Pregnancy complicated by severe osteogenesis imperfecta: a report of two cases. Anesth Analg. 2002;94(5):1315–7.CrossRefGoogle Scholar
  7. 7.
    Murray S, Shamsuddin W, Russell R. Sequential combined spinal-epidural for caesarean delivery in osteogenesis imperfecta. Int J Obstet Anesth. 2010;19(1):127–8.CrossRefGoogle Scholar
  8. 8.
    Dinges E, Ortner C, Bollag L, Davies J, Landau R. Osteogenesis imperfecta: cesarean deliveries in identical twins. Int J Obstet Anesth. 2015;24(1):64–8.CrossRefGoogle Scholar
  9. 9.
    Cubert R, Cheng EY, Mack S, Pepin MG, Byers PH. Osteogenesis imperfecta: mode of delivery and neonatal outcome. Obstet Gynecol. 2001;97(1):66–9.PubMedGoogle Scholar
  10. 10.
    Cozzolino M, Perelli F, Maggio L, Coccia ME, Quaranta M, Gizzo S, et al. Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. 2016;293:1153–9.CrossRefGoogle Scholar
  11. 11.
    Yeo ST, Paech MJ. Regional anaesthesia for multiple caesarean sections in a parturient with osteogenesis imperfecta. Int J Obstet Anesth. 1999;8(4):284–7.CrossRefGoogle Scholar
  12. 12.
    Broadway J. Correspondence: osteogenesis imperfecta: regional anaesthesia not always possible. Int J Obstet Anesth. 2000;9(3):213–4.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of AnesthesiologyYale University School of MedicineNew HavenUSA

Personalised recommendations