Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report.

ABSTRACT:

Introduction

Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherited in an autosomal dominant pattern, and 17 genetic causes have been identified. Diagnosis is usually based on clinical presentation and low bone mineral density scores, while treatment involves a multidisciplinary approach using medical therapies such as bisphosphonates, vitamin C, and pamidronate. Recent research has also explored new therapies, including teriparatide, denosumab, and allele-specific silencing (Edelu et al. in Ann Med Health Sci Res 4(Suppl 1):S1-5, 2014; Bastos et al. in Einstein (São Paulo) 8:480-2, 2010; Van Dijk and Sillence in Am J Med Genet

SUBMITTER: Richard S 

PROVIDER: S-EPMC11748959 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature