Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective

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

doi:10.1016/j.ocl.2018.10.003

Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective

Orthop Clin North Am. 2019 Apr;50(2):193-209. doi: 10.1016/j.ocl.2018.10.003.

Authors

Jeanne M Franzone¹, Suken A Shah², Maegen J Wallace³, Richard W Kruse²

Affiliations

¹ Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA. Electronic address: [email protected].
² Department of Orthopaedic Surgery, Nemours Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.
³ Department of Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, 8200 Dodge Street, Omaha, NE 68114, USA.

PMID: 30850078
DOI: 10.1016/j.ocl.2018.10.003

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.

Keywords: Brittle bones; Extremity deformity; Osteogenesis imperfecta; Spine deformity.

Publication types

Review

MeSH terms

Adolescent
Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / pathology
Bone Diseases, Developmental / physiopathology
Calcium / administration & dosage
Calcium / therapeutic use
Child
Child, Preschool
Diphosphonates / administration & dosage
Diphosphonates / therapeutic use
Exercise / physiology
Female
Foot Orthoses / standards
Fractures, Bone / complications
Fractures, Bone / therapy
Humans
Infant
Interdisciplinary Communication
Limb Deformities, Congenital / diagnosis*
Limb Deformities, Congenital / etiology
Limb Deformities, Congenital / surgery
Limb Deformities, Congenital / therapy
Male
Osteogenesis Imperfecta / diagnosis*
Osteogenesis Imperfecta / drug therapy
Osteogenesis Imperfecta / genetics*
Osteogenesis Imperfecta / pathology
Scoliosis / pathology
Scoliosis / surgery
Spine / abnormalities
Spine / pathology
Vitamin D / therapeutic use

Substances

Diphosphonates
Vitamin D
Calcium