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osteogenesis imperfecta

 

Definition: a group of connective tissue disorders of type I collagen, characterized by bone fragility, fractures on trivial trauma, skeletal deformity, blue sclerae, ligament laxity, and hearing loss. The Sillence system, which is a clinical, radiographic, and genetic classification, shows four types; inherited as autosomal dominant, caused by mutation in either the collagen type I alpha-1 gene (COL1A1) on chromosome 17q or the alpha-2 gene (COL1A2) on 7q.

Synonym(s): brittle bones

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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