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

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

OI type VII has been described in an isolated First Nations community in northern Quebec. [18, 19] It is clinically similar to OI types II and IV but has rhizomelia as a distinctive feature. The gene mutation has been mapped to region 3p22-24.1.


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