P35 Improved survival in rare recessive osteogenesis imperfecta through multidisciplinary team support and early bisphosphonate use

Osteogenesis imperfecta (OI) or Brittle bone disease is a rare genetic connective tissue disorder with the majority of mutations found in collagen type 1 genes (COL1A1/COL1A2) or their related SIBLING proteins. The condition is characterized by increased bone fragility, resulting from abnormal collagen formation. Recessive forms of OI are associated with increased severity and lethality due to mutations in LEPRE1, encoding prolyl 3-hydroxylase-1...