Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.

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

Journal: The Orthopedic clinics of North America 2019;50(2):193-209

PMID: 30850078

Full Text on Elsevier Science View on PubMed

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.

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

DOI: 10.1016/j.ocl.2018.10.003

Link outs

Free resources

Medical:

https://medlineplus.gov/osteogenesisimperfecta.htm...

Subscription / membership required

Full Text Sources:

MeSH Terms: Adolescent, Bone Diseases, Developmental, Calcium, Child, Child, Preschool, Diphosphonates, Exercise, Female, Foot Orthoses, Fractures, Bone, Humans, Infant, Interdisciplinary Communication, Limb Deformities, Congenital, Male, Osteogenesis Imperfecta, Scoliosis, Spine, Vitamin D