Brittle Bones and Frequent Fractures

  • Benjamin Joseph


Frequent fractures following trivial trauma or during normal daily activities occur in a group of conditions where the bones are brittle. The most common of these conditions is osteogenesis imperfecta (Plotkin 2004). Various types of osteogenesis imperfecta have been described; the severity, the frequency of fractures, and other clinical features vary in each of the types (Sillence et al. 1979; Sillence 1988; Glorieux et al. 2000).


Osteogenesis Imperfecta Positive Family History Radial Head Frequent Fracture Normal Daily Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Ablin DS, Sane SM. Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol. 1997;27:111–3.PubMedCrossRefGoogle Scholar
  2. al Gazali LI, Sabrinathan K, Nair KG. A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents. Clin Dysmorphol. 1994;3:55–62.PubMedGoogle Scholar
  3. Beighton P. Osteoporosis-pseudoglioma syndrome. Clin Genet. 1986;29:263.PubMedCrossRefGoogle Scholar
  4. Bulloch B, Schubert CJ, Brophy PD, et al. Cause and clinical characteristics of rib fractures in infants. Pediatrics. 2000;105:E48.PubMedCrossRefGoogle Scholar
  5. Carty HM. Fractures caused by child abuse. J Bone Joint Surg Br. 1993;75:849–57.PubMedGoogle Scholar
  6. Chapman S. Child abuse or copper deficiency? A radiological view. Br Med J (Clin Res Ed). 1987;294:1370.CrossRefGoogle Scholar
  7. Chapman S, Hall CM. Non-accidental injury or brittle bones. Pediatr Radiol. 1997;27:106–10.PubMedCrossRefGoogle Scholar
  8. Cole DE, Carpenter TO. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr. 1987;110:76–80.PubMedCrossRefGoogle Scholar
  9. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15:1650–8.PubMedCrossRefGoogle Scholar
  10. Glorieux FH, Ward LM, Rauch F, et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002;17:30–8.PubMedCrossRefGoogle Scholar
  11. Kasim MS, Cheah I, Sameon H. Osteogenesis imperfecta and non-accidental injury: problems in diagnosis and management. Med J Malaysia. 1995;50:170–5.PubMedGoogle Scholar
  12. Keller KA, Barnes PD. Rickets vs. abuse: a national and international epidemic. Pediatr Radiol. 2008;38:1210–6.PubMedCrossRefGoogle Scholar
  13. Leroy JG, Nuytinck L, De Paepe A, et al. Bruck syndrome: neonatal presentation and natural course in three patients. Pediatr Radiol. 1998;28:781–9.PubMedCrossRefGoogle Scholar
  14. Loder RT, Bookout C. Fracture patterns in battered children. J Orthop Trauma. 1991;5:428–33.PubMedCrossRefGoogle Scholar
  15. Marlowe A, Pepin MG, Byers PH. Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet. 2002;39:382–6.PubMedCentralPubMedCrossRefGoogle Scholar
  16. Plotkin H. Syndromes with congenital brittle bones. BMC Pediatr. 2004;4:16.PubMedCentralPubMedCrossRefGoogle Scholar
  17. Semler O, Cheung MS, Glorieux FH, et al. Wormian bones in osteogenesis imperfecta: correlation to clinical findings and genotype. Am J Med Genet A. 2010;152A:1681–7.PubMedCrossRefGoogle Scholar
  18. Sillence DO. Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci. 1988;543:1–15.PubMedCrossRefGoogle Scholar
  19. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–16.PubMedCentralPubMedCrossRefGoogle Scholar
  20. Smith R. Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease. Arch Dis Child. 1995;72:169–71. discussion 171–166.PubMedCentralPubMedCrossRefGoogle Scholar
  21. Steiner RD, Pepin M, Byers PH. Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr. 1996;128:542–7.PubMedCrossRefGoogle Scholar
  22. Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome). Clin Genet. 1989;36:122–6.PubMedCrossRefGoogle Scholar

Copyright information

© Springer India 2015

Authors and Affiliations

  • Benjamin Joseph
    • 1
  1. 1.Aster MedcityKochiIndia

Personalised recommendations