osteogenesis imperfecta type 19

An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutati

An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.

Signs and symptoms

• Rhizomelia
• Biconcave vertebral bodies
• Osteopenia
• Bowing of the legs
• Vertebral wedging
• Recurrent fractures
• Bowing of the arm
• Multiple prenatal fractures
• Severe short stature
• Scoliosis

Also known as: OI19; osteogenesis imperfecta type XIX