What is the prognosis of osteogenesis imperfecta (OI)?

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

Morbidity and mortality associated with OI vary widely, depending on the genotype. (See also the adapted Sillence classification in Presentation.) In addition, variability occurs between individuals with different mutations, and variability has also been observed between unrelated individuals with the same mutations, between members of the same family, and even between identical twins on occasion.

At one extreme, early stillbirths occur, and virtually every bone in the body has multiple fractures. The severe perinatal form (type II) is usually fatal within hours after birth, though some babies survive for several months. At the other extreme is OI in its mildest form. In this setting, adults who have never sustained a fracture come to medical attention only because their family members are affected. Between these extremes is a smooth continuum of severity.

The life expectancy of subjects with nonlethal OI appears to be the same as that for the healthy population, except for those with severe OI with respiratory or neurologic complications. Although patients with lethal OI may die in the perinatal period, individuals with extremely severe OI can survive until adulthood.


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