الملخص الإنجليزي
Osteogenic imperfecta is one of the most common inherited
bone diseases. The disease typically involves the bones, teeth,
ligaments, eyes and skin and is characterized by bone fragility.
Aim: To estimate the prevalence and the clinical characteristics
of osteogenic imperfecta in the Dakhliya region of the Sultanate
of Oman. Method: Retrospective study of all cases of OI
diagnosed and followed in Nizwa hospital since 2000. Data was
collected from the case files obtained from the medical record
department.
Result: A total of 22 patients were identified in the study 10
(45.5%) were male and 12 (54.5%) were female. The mean age of
diagnosis was 6.46 years. The parents of all patients had a first
degree consanguineous marriage. A total of 66 fractures were
sustained in these patients.
Conclusion: Osteogenic imperfecta is an important disease
in Oman with high morbidity and mortality. There are new
modalities of treatment like Bisphosphante which have been
studied recently and showed remarkable improvements in the
bone mineral densities of these patients. We suggest starting an
OI registry in the country. This will enable the scientist and the
medical professional to diagnose, treat and study these patients
appropriately and promptly.
