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Pediatr Clin North Am. 2014 Dec;61(6):1243-57. doi: 10.1016/j.pcl.2014.08.010. Epub 2014 Sep 22.

Update on the evaluation and treatment of osteogenesis imperfecta.

Author information

1
Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G1X8, Canada.
2
Division of Orthopedic Surgery, Department of Pediatrics, Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G1X8, Canada. Electronic address: andrew.howard@sickkids.ca.

Abstract

Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that presents with a wide clinical phenotype spectrum: from perinatal lethality and severe deformities to very mild forms without fractures. Most cases of OI are due to autosomal dominant mutations of the type I collagen genes. A multidisciplinary approach with rehabilitation, orthopedic surgery, and consideration of medical therapy with bisphosphonates underpins current management. Greater understanding of the pathogenesis of OI may lead to novel, therapeutic approaches to help improve clinical symptoms of children with OI in the future.

KEYWORDS:

Bisphosphonates; Collagen; Fractures; Osteogenesis imperfecta

PMID:
25439022
DOI:
10.1016/j.pcl.2014.08.010
[Indexed for MEDLINE]

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