Armelle Renaud, Julie Aucourt, Jacques Weill, Julien Bigot, Anne Dieux, Louise Devisme, Antoine Moraux, Nathalie Boutry
BACKGROUND: Osteogenesis imperfecta (OI), commonly called "brittle bone disease", is a genetic disorder characterised by increased bone fragility and decreased bone density due to quantitative and/or qualitative abnormalities of type I collagen. Different types of OI exist, from mild to severe; they may lead to death, multiple bone fractures, skeletal deformity and short stature. METHODS: Severe cases are usually diagnosed before birth and may incite the parents to choose therapeutic abortion, whereas milder cases are much more difficult to diagnose and may be sometimes confused with non-accidental injury (NAI) ("child abuse") in young children...
August 2013: Insights Into Imaging