Osteogenesis Imperfecta (OI) Differential Diagnoses

Updated: Nov 29, 2018
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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DDx

Diagnostic Considerations

Because osteogenesis imperfecta (OI) can manifest itself in a wide variety of ways, differential diagnoses are best categorized into the following three stages of life:

  • Antenatal/neonatal
  • Preschool/childhood
  • Adolescence/adulthood

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.

Other conditions that should be considered in the preschool/childhood stage include the following:

  • Pyknodysostosis
  • Hajdu-Cheney syndrome
  • Osteochondromatosis
  • Nonaccidental injury

Other conditions that should be considered in the adolescence/adulthood stage include the following:

  • Maffucci syndrome

For genetic conditions, patients present with fractures. For idiopathic juvenile osteoporosis, patients aged 8-13 years present with skeletal pain, atraumatic fracture, and reduced bone density. The condition remits by early adulthood.

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.

Differential Diagnoses