Conditions / Genetic
osteogenesis imperfecta type 8
info · Genetic · ICD-10: Q78.0
An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2.
Signs and symptoms
- Short metacarpal
- Osteopenia
- Disproportionate short-limb short stature
- Recurrent fractures
- Vertebral compression fracture
- Thin ribs
- Multiple prenatal fractures
- Wide anterior fontanel
- Tibial bowing
- Femoral bowing
Also known as: OI8; osteogenesis imperfecta type VIII