Genetics of Osteogenesis Imperfecta Differential Diagnoses

Updated: Aug 02, 2021
  • Author: Eric T Rush, MD, FAAP; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Diagnostic Considerations

The differential diagnosis of osteogenesis imperfecta (OI) is broad and is very different for patients with severe forms of OI compared with those suffering from milder forms. Patients with severe OI may also be evaluated for other potentially lethal skeletal dysplasias. In patients with less severe forms of OI, the disease may be mistaken for nonsyndromic forms of osteoporosis or may not be appreciated. Examples of potential diagnostic considerations across the spectrum of disease include the following:

  • Nonaccidental trauma

  • Campomelic dysplasia

  • Thanatophoric dysplasia

  • Achondrogenesis type I

  • Infantile/perinatal/juvenile hypophosphatasia

  • Brittle cornea Syndrome

  • Steroid-induced osteoporosis

  • Idiopathic juvenile osteoporosis

  • Osteoporosis of disuse

Differential Diagnoses