Osteogenesis Imperfecta Involving A Mother And Her Two Daughters With A Review Of Literature
- Author:
Daniel A Ndidiamaka Onyiriuka
;
Vashti Edosuyi
- Publication Type:Journal Article
- Keywords:
collagen disorders;
dentinogenesis imperfecta;
familial clustering;
osteogenesis imperfecta
- From:
Pacific Journal of Medical Sciences
2025;27(1):28-43
- CountryPapua New Guinea
- Language:English
-
Abstract:
In children, fractures following minimal trauma is the most prevalent sign and a hallmark of osteogenesis
imperfecta (OI). Long bones, particularly in the lower limbs, are frequent fracture sites in children with OI.
The diagnosis is based mainly on history, physical findings and radiographic features. In this report
familial clustering, the clinical and epidemiological characteristics of two female siblings (including their
mother) with OI are described while the newer classification, the differential diagnosis and the aims of
therapy are also emphasized.