Osteogenesis Imperfecta

Excerpt

Osteogenesis imperfecta is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. It is also called brittle bone disease. It is characterized by increased susceptibility to fractures and reduced bone density. Other manifestations include blue sclerae, dentinogenesis imperfecta, short stature, and deafness in adulthood. There are also reports of valvular insufficiencies and aortic root dilation. Milder manifestations include generalized laxity, easy bruising, hernias, and excess sweating. Clinical manifestations range from mild, nearly asymptomatic presentations to severe forms characterized by crumpled ribs, a fragile cranium, and long bone fractures in infancy, which are often incompatible with life and associated with increased perinatal mortality.