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Osteogenesis Imperfecta, Pediatric

Eric T. Rush, MD, FAAP, FACMG Reviewed 10/2018
 


BASICS

DESCRIPTION

Osteogenesis imperfecta (OI) is a genetic disorder primarily affecting bones and connective tissues. 
  • Clinical severity variable and dependent in part on the nature of the molecular l...

DIAGNOSIS

HISTORY

  • Widely varied; may include recurrent fractures including fractures with little or no predisposing trauma

  • May have positive family history. Proportion of people who have OI and have a f...

TREATMENT

GENERAL MEASURES

  • Intramedullary rodding with or without osteotomies:

    • Often performed as early as 18 months of age, but timing depends on several considerations including size of the patient/bo...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

Multidisciplinary approach 
  • Pediatric endocrinologist, geneticist, or other metabolic bone specialist

    • Medical management of OI

  • Pediatric orthopedic...

ADDITIONAL READING

  • Forlino A, Marini JC. Osteogenesis imperfecta. Lancet.  2016;387(10028):1657–1671. [View Abstract on OvidInsights]

  • Glorieux FH, Moffatt P. Osteogenesis imperfecta, an ever-expan...

CODES

ICD9

756.51 Osteogenesis imperfecta 

ICD10

Q78.0 Osteogenesis imperfecta 

SNOMED

  • 78314001 Osteogenesis imperfecta (disorder)

  • 385482004 osteogenesis imperfecta type I (disorder)

  • 205496008 osteogenesis i...

FAQ

  • Q: What is the typical life expectancy for persons with OI?

  • A: Infants with perinatal/lethal (type II) OI do not survive the perinatal period and often die within the first 48 hours of life. For mi...

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