How is osteogenesis imperfecta (OI) differentiated from child abuse?

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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It is of particular importance to differentiate between OI and child abuse (though it must be kept in mind that the two can also coexist). Mild OI is most likely to be confused with child abuse. [23] The sclera and teeth are normal in many patients with OI. A family history is often not present. Keys to distinguishing OI from child abuse if no other stigmata of OI are present include the following points:

  • The type of fracture is of diagnostic significance; although any type of long bone fracture can occur in OI, certain types are rare; metaphyseal corner fractures, which are common in child abuse, are rare in OI
  • In children with OI, fractures may continue to occur while they are in protective custody; however, this scenario is hard to evaluate
  • Child abuse can also be differentiated from OI on the basis of nonskeletal manifestations (eg, retinal hemorrhage, visceral intramural hematomas, intracranial bleeds of various ages, pancreatitis, and splenic trauma)

Collagen analysis is useful in difficult cases, but a negative result does not rule out OI.

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