Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment


  • F.S. Van Dijk,

    1. Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands
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  • D.O. Sillence

    Corresponding author
    1. Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney, Head Connective Tissue Dysplasia Management Service, The Children's Hospital at Westmead, Sydney, Australia
    • Correspondence to:

      D.O. Sillence, M.D. (Melb), FRACP, Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medical School, University of Sydney Sydney Children's Hospital Network (Westmead), Locked Bag 4001, Westmead, NSW 2145, Australia.

      E-mail: david.sillence@health.nsw.gov.au

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This article is corrected by:

  1. Errata: Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment Volume 167, Issue 5, 1178, Article first published online: 27 February 2015


Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution–NonCommercial–NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.