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

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

OI type VIII is a recessive form of lethal or severe OI. It is caused by null mutations in P3H1, which encodes prolyl 3-hydroxylase 1. [20]  With respect to appearance and symptoms, type VIII resembles types II and III, except for white sclerae. Severe growth deficiency and extreme under-mineralization of the skeleton are noted.


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