Diagnosis and Management of Type 4-IV Osteogenesis Imperfecta from Intrauterine Life to School Age: A Clinical Case Study

Osteogenesis imperfecta (OI) is a genetically heterogeneous hereditary disorder characterized by increased bone fragility, leading to recurrent fractures following minimal or no trauma. In 2009, the International Nomenclature Committee for Constitutional Disorders of the Skeleton (INCDS), and as published in the 2010 Nosology, OI was reclassified into five major types. Type IV OI is caused by mutations in the COL1A1 and COL1A2 genes, which are responsible for the synthesis of type I collagen, a critical component of bone matrix. These mutations result in varying degrees of bone deformity, growth retardation, and other systemic manifestations. In this report, we present a case of antenatal diagnosis of OI, providing a comprehensive overview of the disease's evolution from the intrauterine stage through early childhood and into school age. This case illustrates the wide phenotypic variability of OI, with clinical manifestations spanning the prenatal period, birth, infancy, and school years, and highlights the multiple complications encountered at each stage of development. The profound impact of the disorder on the patient’s daily functioning and the family’s quality of life is also discussed.