Osteogenesis imperfecta
Osteogenesis imperfecta
Sistema musculoesquelético
Trastornos congénitos
Trastornos degenerativos y metabólicos
Trastornos infecciosos, inmunológicos e inflamatorios
Trastornos traumáticos y mecánicos
Otros trastornos
Revisión de las enfermedades del sistema musculoesquelético
Aspectos destacados
en inglés
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by impaired production of type 1 collagen, an essential protein in the development and maintenance of bones and connective tissue. Collagen provides strength and support to the bones, and in individuals with OI, the collagen produced is weak, leading to bones that are brittle and prone to fractures.
OI may present with shorter height and neurological features, including communicating hydrocephalus, basilar invagination, seizures, blue sclerae, hearing loss, and other complications. Associated fractures may cause acute or chronic pain, reduced quality of life, and depression.