Which physical findings are characteristic of osteogenesis imperfecta (OI) variants?

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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Answer

Many cases of OI do not fit into the aforementioned categories; such variants include the following:

  • Osteoporosis-pseudoglioma syndrome - This is caused by mutations in the gene encoding for the low-density-lipoprotein receptor-related protein 5 (LRP5), with clinical features including blindness and bone fragility; LRP5 is thought to mediate the proliferation and differentiation of osteoblasts
  • Bruck syndrome - This is an autosomal recessive condition caused by mutations in the bone-specific collagen type 1 telopeptide lysyl hydroxylase enzyme, with clinical features that include congenital joint contractures and bone fragility [21]
  • Cole-Carpenter syndrome - This is a severe progressive form of OI, with associated multisutural craniosynostosis and growth failure

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