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Chapter 1. Osteogenesis Imperfecta

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Topic: Osteogenesis imperfecta
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Sort Desciption: Osteogenesis imperfecta (OI), also known as Brittle Bone Disease, is a heritable disorder of connective tissue. Its hallmark feature is bone fragility, with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. ...

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Osteogenesis imperfecta (OI), also known as Brittle Bone Disease, is a heritable disorder of connective tissue. Its hallmark feature is bone fragility, with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. In the more severe forms of the disorder, the bones are deformed as well as fragile. Most individuals with OI have signicant physical handicaps. Affected persons also exhibit an array of associated features, including short stature, macrocephaly, blue sclerae, dentinogenesis imperfecta, hearing loss and neurological and pulmonary complications. There is no preferential distribution of osteogenesis imperfecta by gender, race, or ethnic group. Osteogenesis imperfecta is a paradigm for the clinical management and genetic analysis of a dominant disorder of a structural protein. OI developed as a paradigm for a dominant disorder of structural protein because it is not rare and its etiology of type I collagen defects has been known for about two decades. The incidence of forms of OI recognizable at birth is 1/16-20,000, with about equal incidence of mild forms that are not recognizable until later in life. 1 OI and Marfans Syndrome share the distinction of being the most common heritable connective tissue disorders. Clinical classication and phenotype David Sillence formulated the classication currently in common use for osteogenesis imperfecta in 1979. 2 Since type I collagen defects were not known to cause OI at that time, the Sillence Classication is an articial grouping based on clinical and radiographic features. The clinical spectrum of OI ranges from perinatal lethal to a mild form that can present in middle aged adults as premature osteoporosis. All types of OI have autosomal dominant inheritance. 3 Some severe cases were thought to be autosomal recessive at the time the Sillence Classication was formulated, but are now known ...

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