Which clinical history findings are characteristic 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

Patients often have a family history of osteogenesis imperfecta (OI), but most cases are due to new mutations.

Patients most commonly present with fractures after minor trauma. In severe cases, antenatal screening ultrasonography (US) performed during the second trimester may show bowing of long bones, fractures, limb shortening, and decreased skull echogenicity. Lethal OI cannot be diagnosed with certainty in utero.

Patients may bruise easily. They may have repeated fractures after mild trauma. However, these fractures heal readily. Deafness is another feature. About 50% of patients with type I OI (see Physical Examination) have deafness by age 40 years.


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