Osteogenesis imperfecta is a rare systemic disease of unknown etiology, characterized by imperfect development of bones. Increased absorption of deficiently formed bony trabeculae leads to deficient formation of cortex and spongiosa, which results in osteoporosis. Clinically it is characterized by multiple intraperiosteal fractures, usually with little displacement of fragments and excessive callus formation. It occurs in two clinical forms, namely, osteogenesis imperfecta congenita and osteogenesis imperfecta tarda.
The name osteogenesis imperfecta congenita was coined by Vrolik1 in 1845. Although a number of other names have been proposed for this disease, Vrolik's designation seems to be the best, since it is derived from pathology of the disease and does not assume or presuppose anything. Synonyms for this disease are as follows : osteomalacia congenita, because in some cases the bones are abnormally pliable; rachitis fcetalis annularis, because of the excessive callus formation at
HESS JH. OSTEOGENESIS IMPERFECTA. Arch Intern Med (Chic). 1917;XIX(2):163-193. doi:10.1001/archinte.1917.00080210002001