Osteogenesis imperfecta.
Article
in English
| IMSEAR
| ID: sea-143511
ABSTRACT
Background:
Osteogenesis imperfecta (OI) is a rare metabolic bone disorder characterized by increased bone fragility, low bone mass, recurrent fractures and numerous extra-osseus features. Many patients remain undiagnosed and unattended particularly in developed countries. Presently, medical management with bisphosphonates has changed the scenario. Materials andMethods:
Twenty consecutive patients of OI were enrolled over a period of four years. Their clinical features, radiology, and biochemical parameters and treatment outcome were analysed.Results:
Of the 20 patients, 16 (80%) were male and 4 (20%) were female. Mean age (SD) of the patients was 20.8 (13.8) years. All the patients had presented with fractures, the number of fractures per person varying from 1 to 20. Long bones were predominantly involved and thirteen (65%) had deformities of long bones. Ten (50%) had a positive family history of fractures after trivial traum. Eleven (55%) patients had dentiginous imperfecta (DI) and ten (50%) had blue sclerae at presentation. Impaired hearing was present in 1 patient only. Calcium profile was normal. Nine patients received pamidronate. Fracture frequency and pain decreased remarkably in these patients.Conclusion:
Patients with OI presented late, predominantly with fracture of long bones, deformities and blue sclerae. Pamidronate therapy remarkably decreased fractures and pain in these patients. ©
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Osteogenesis Imperfecta
/
Female
/
Humans
/
Male
/
Bone Density
/
Child
/
Child, Preschool
/
Adolescent
/
Treatment Outcome
/
Adult
Country/Region as subject:
Asia
Language:
English
Year:
2009
Type:
Article
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