osteogenesis imperfecta type 2

info · Genetic · ICD-10: Q78.0

An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Signs and symptoms

Thoracic hypoplasia
Bell-shaped thorax
Absent ossification of calvaria
Limb undergrowth
Multiple rib fractures
Crumpled long bones
Thin ribs
Multiple prenatal fractures
Tibial bowing
Nonimmune hydrops fetalis

Also known as: OI2; Vrolik type of osteogenesis imperfecta; osteogenesis imperfecta type II; perinatal lethal osteogenesis imperfecta congenita