osteogenesis imperfecta type 6

An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.

Signs and symptoms

• Elevated circulating alkaline phosphatase concentration
• Blue sclerae
• Motor delay
• Elevated circulating deoxypyridinoline concentration
• Bowing of the legs
• Recurrent fractures
• Increased susceptibility to fractures
• Bowing of the arm
• Vertebral compression fracture
• Biconcave vertebral bodies

Also known as: OI6; osteogenesis imperfecta type VI