osteogenesis imperfecta type 3

info · Genetic · ICD-10: Q78.0

An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Signs and symptoms

Popcorn calcification
Tibial bowing
Severe generalized osteoporosis
Hearing impairment
Biconcave vertebral bodies
Protrusio acetabuli
Wide anterior fontanel
Decreased calvarial ossification
Disproportionate short-limb short stature
Recurrent fractures

Also known as: OI3; osteogenesis imperfecta type III; progressively deforming osteogenesis imperfecta with normal sclera