Osteogenesis imperfecta.
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.


METHODS
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.


CONCLUSIONS
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.
Bhadada
S K
SK
Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh.
Santosh
R
R
Bhansali
A
A
Upreti
V
V
Dutta
P
P
D000293:Adolescent; D000328:Adult; D015519:Bone Density; D050071:Bone Density Conservation Agents / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004164:Diphosphonates / Q000627:therapeutic use*; D005260:Female; D050723:Fractures, Bone / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000453:epidemiology; D000077268:Pamidronate; D016896:Treatment Outcome; D055815:Young Adult
D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D000077268:Pamidronate