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What is Osteogenesis Imperfecta: Diagnosis & Classification about?

This document reviews the clinical classification and nomenclature of osteogenesis imperfecta (OI), a heterogeneous group of connective tissue disorders characterized by bone fragility. It summarizes the history of OI classification beginning with the original 1979 Sillence classification which grouped OI into four clinical types based on inheritance patterns and symptoms. Since then, 17 genetic causes of OI have been identified. The review discusses a newly proposed 2010 classification system that returns

Author

Alexia Nadine Puel

Language

EN