We report a 20-year-old male patient with Osteogenesis imperfecta, who suffered from multiple long bone fractures and spinal kyphoscoliosis since his childhood.

• 本研究报告一例廿岁的男性骨发生不全患者，自幼年起即常发生四肢长骨骨折，并由于脊椎变形严重，造成心肺功能障碍。