Advertisement

17 Osteogenesis imperfecta

  • M. van Brussel

Samenvatting

Osteogenesis imperfecta (OI) is een aandoening waarbij collageen type I verminderd en/of afwijkend door mesenchymale cellen wordt aangemaakt (Byers, 1993).

Literatuur

  1. acsm. American College of Sports Medicine Position Stand. The recommended quantity and quality of exercise for developing and maintaining cardiorespiratory and muscular fitness, and flexibility in healthy adults. Med Sci Sports Exerc. 1998;30:975-91.CrossRefGoogle Scholar
  2. Brussel M van, Takken T, Uiterwaal CSPM, Pruijs HJ, Net J van der, Helders PJM, et al. Physical training in children with Osteogenesis Imperfecta. J Pediatr 2008;152;111-6.PubMedCrossRefGoogle Scholar
  3. Byers PH. Osteogenesis Imperfecta. In: Royce PM, Steinman B, editors. Connective Tissue and Its Heritable Disorders. Molecular, Genetic and Medical Aspects. New York, ny, usa: Wiley Liss. 1993. pp. 317-50.Google Scholar
  4. Engelbert RH, Beemer FA, Graaf Y van der, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability – a follow-up study. Arch Phys Med Rehabil. 1999;80:896-903.PubMedCrossRefGoogle Scholar
  5. Engelbert RH, Graaf Y van der, Empelen R van, Beemer FA, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability. Pediatrics. 1997;99:E3.PubMedCrossRefGoogle Scholar
  6. Engelbert RH, Gulmans VA, Uiterwaal CS, Helders PJ. Osteogenesis imperfecta in childhood: perceived competence in relation to impairment and disability. Arch Phys Med Rehabil. 2001;82:943-8.PubMedCrossRefGoogle Scholar
  7. Engelbert RH, Pruijs HE, Beemer FA, Helders PJ. Osteogenesis imperfecta in childhood: treatment strategies. Arch Phys Med Rehabil. 1998;79:1590-4.PubMedCrossRefGoogle Scholar
  8. Engelbert RH, Uiterwaal CS, Gulmans VA, Pruijs H, Helders PJ. Osteogenesis imperfecta in childhood: prognosis for walking. J Pediatr. 2000;137:397-402.PubMedCrossRefGoogle Scholar
  9. Hortop J, Tsipouras P, Hanley JA, Maron BJ, Shapiro JR. Cardiovascular involvement in osteogenesis imperfecta. Circulation. 1986;73:54-61.PubMedCrossRefGoogle Scholar
  10. Janz KF, Burns TL, Torner JC, Levy SM, Paulos R, Willing MC, et al. Physical activity and bone measures in young children: the Iowa bone development study. Pediatrics. 2001;107:1387-93.PubMedCrossRefGoogle Scholar
  11. Kaiser-Kupfer MI, McCain L, Shapiro JR, Podgor MJ, Kupfer C, Rowe D. Low ocular rigidity in patients with osteogenesis imperfecta. Invest Ophthalmol Vis Sci. 1981;20:807-9.PubMedGoogle Scholar
  12. Kemper HCG, Niemeyer C. The importance of a physical active lifestyle during youth for peak bone mass. In: Blimkie CJR, Bar-Or O, editors. New Horizons in pediatric science. Champaign, il: Human Kinetics;1995. pp. 77-95.Google Scholar
  13. Paterson CR, Ogston SA, Henry RM. Life expectancy in osteogenesis imperfecta. bmj. 1996;312:51.PubMedCentralPubMedCrossRefGoogle Scholar
  14. Pedersen U. Hearing loss in patients with Osteogenesis Imperfecta. A clinical and audiological study of 201 patients. Scand Audiol. 1984;13:67-74.PubMedGoogle Scholar
  15. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377-85.PubMedCrossRefGoogle Scholar
  16. Rowland TW. Responces to physical training. In: Children’s Exercise Physiology. Champaign, il: Human Kinetics;. 2004. pp. 197/220.Google Scholar
  17. Sillence D, Butler B, Latham M, Barlow K. Natural history of blue sclerae in osteogenesis imperfecta. Am J Med Genet. 1993;45:183-6.PubMedCrossRefGoogle Scholar
  18. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-16.PubMedCentralPubMedCrossRefGoogle Scholar
  19. Takken T, Terlingen HC, Helders PJ, Pruijs H, Ent CK van der, Engelbert RH. Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. J Pediatr. 2004;145:813-8.PubMedCrossRefGoogle Scholar
  20. Willing MC, Pruchno CJ, Atkinson M, Byers PH. Osteogenesis imperfecta type i is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet. 1992;51:508-15.PubMedCentralPubMedGoogle Scholar

Copyright information

© Bohn Stafleu van Loghum, onderdeel van Springer Uitgeverij 2008

Authors and Affiliations

  • M. van Brussel
    • 1
  1. 1.Wilhelmina KinderziekenhuisUMC UtrechtUtrecht

Personalised recommendations