[Antenatal forms of osteogenesis imperfecta. Classification trial].
A classification of the different types of osteogenesis imperfecta is proposed. There are 3 main groups: the lethal type, the severe type and the so-called regressive type, with a more favorable course. This classification was established to allow for a more precise definition of the prognosis at the time of birth, or even in utero when diagnosis is made by ultrasonography. It should also allow for better classification of the data obtained by the study of the molecular collagen. This project is different from Sillence's one by the exclusion of type II B lethal types, which are often compatible with survival. In view of the frequent occurrence of a dominant mutation in the type II A, the more generally accepted recessive transmission is discussed.
D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011379:Prognosis; D011859:Radiography
Les formes anténatales de l'ostéogenèse imparfaite. Essai de classification.