Pamidronate and fassier-duval telescopic stem: pillars in the treatment of osteogenesis imperfecta

Osteogenesis imperfecta is a systemic genetic disease of connective tissue with a prevalence of 6 to 7 per 100,000 births, affecting collagen type 1 containing tissues, especially bone tissue. Low bone mass is its main characteristic, which causes fragile bones, susceptible to deformities and recurrent fractures. Approximately 90% of individuals are heterozygous for mutations in the COL1A1 and COL1A2 genes,with a dominant inheritance pattern or sporadic mutations.