What is the role of ultrasonography in the workup 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

Antenatal US is most useful in evaluating OI types II and III. It is capable of detecting limb-length abnormalities at 15-18 weeks’ gestation. In its most severe form, the disease may be evident as early as 16 weeks’ gestation.

Mild forms of OI may result in normal findings on US. Features include supervisualization of intracranial contents caused by decreased mineralization of calvaria (also calvarial compressibility), bowing of the long bones, decreased bone length (especially of the femur), and multiple rib fractures.


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