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Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective

Jeanne M Franzone1, Suken A Shah1, Maegen J Wallace2

  • 1Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.

The Orthopedic Clinics of North America
|March 10, 2019
PubMed

Insights

Osteogenesis imperfecta (OI) is a genetic disorder affecting type I collagen, causing brittle bones and fractures. This pediatric orthopedic review covers OI presentation and management strategies.

Area of Science:

  • Genetics and Molecular Biology
  • Orthopedics
  • Pediatric Medicine

Background:

  • Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder.
  • It stems from defects in type I collagen production.
  • OI manifests as brittle bones, fractures, deformities, and extraskeletal issues.

Purpose of the Study:

  • To describe the clinical presentation of Osteogenesis Imperfecta.
  • To outline management considerations for OI.
  • To provide a pediatric orthopedic perspective on OI.

Main Methods:

  • Literature review of Osteogenesis Imperfecta.
  • Clinical case analysis.
  • Pediatric orthopedic management strategies.

Main Results:

  • OI presents with variable severity and extraskeletal manifestations.
  • Early diagnosis and intervention are crucial.
  • Management requires a multidisciplinary approach.

Conclusions:

  • Osteogenesis Imperfecta requires comprehensive management.
  • Pediatric orthopedic care is vital for fracture prevention and deformity correction.
  • Further research into genetic therapies and long-term outcomes is needed.

Keywords:
Brittle bonesExtremity deformityOsteogenesis imperfectaSpine deformity

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