Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective

Jeanne M. Franzone, Suken A. Shah, Maegen J. Wallace, Richard W. Kruse

Research output: Contribution to journalReview article

6 Scopus citations

Abstract

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Osteogenesis imperfecta includes a multitude of disease manifestations that may be present at birth or develop over time and vary depending on the severity of the disease. This article describes the disease presentation and management considerations from a pediatric orthopedic perspective.

Original languageEnglish (US)
Pages (from-to)193-209
Number of pages17
JournalOrthopedic Clinics of North America
Volume50
Issue number2
DOIs
StatePublished - Apr 2019

Keywords

  • Brittle bones
  • Extremity deformity
  • Osteogenesis imperfecta
  • Spine deformity

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine

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