Which conditions are included in the differential diagnoses of osteogenesis imperfecta (OI) during the antenatal/neonatal period?

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

In addition to the conditions listed in the differential diagnosis, other conditions that should be considered in the antenatal/neonatal stage include the following:

  • Jeune dystrophy
  • Camptomelic dysplasia
  • Chondrodysplasia punctata
  • Chondroectodermal dysplasia ( Ellis–van Creveld syndrome)
  • Nonaccidental injury

Hypophosphatasia may also be present. Patients may have blue sclerae, fractures, and wide fontanelles. This condition is characterized by low serum alkaline phosphatase levels and, in the severe recessive form, skin dimples overlying Bowdler spurs located symmetrically on the midshaft of the fibula, ulna, and radius.


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