Osteogenesis Imperfecta
Synonyms
Brittle Bone Disease
Disease, Lobstein
Disease, Lobstein's
Fragilitas Ossium
Lobstein Disease
Lobstein's Disease
Lobsteins Disease
Ossiums, Fragilitas
Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta Tardas
Osteogenesis Imperfecta with Blue Sclerae
Osteogenesis Imperfecta, Type 1
Osteogenesis Imperfecta, Type I
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.