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Classification of Osteogenesis Imperfecta revisited

2009; Elsevier BV; Volume: 53; Issue: 1 Linguagem: Inglês

10.1016/j.ejmg.2009.10.007

1878-0849

Fleur S. van Dijk, Gerard Pals, Rick R. van Rijn, Peter G. J. Nikkels, Jan M. Cobben,

Ubiquitin and proteasome pathways

In 1979 Sillence proposed a classification of Osteogenesis Imperfecta (OI) in OI types I, II, III and IV. In 2004 and 2007 this classification was expanded with OI types V-VIII because of distinct clinical features and/or different causative gene mutations. We propose a revised classification of OI with exclusion of OI type VII and VIII since these types have been added because of genetic criteria (autosomal recessive inheritance) while the clinical and radiological features are indistinguishable from OI types II-IV. Instead, we propose continued use of the Sillence criteria I, II-A, II-B, II-C, III and IV for clinical and radiological classification of OI with additional mentioning of the causative mutated gene to this classification. OI type V and VI are still part of this revised classification, because of the distinguishing clinical/radiological and/or histological features observed in these types.