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  • Review of: ‘Bone dysplasia—an atlas of genetic disorders of skeletal development (fourth edition)’ Edited by: Jürgen W Spranger, Paula W Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger. Published by: Oxford University Press, 2018

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Phenotypes
Communication
Review of: ‘Bone dysplasia—an atlas of genetic disorders of skeletal development (fourth edition)’ Edited by: Jürgen W Spranger, Paula W Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger. Published by: Oxford University Press, 2018
  1. Frank Rauch
  1. Shriners Hospitals for Children Canada, Montreal, QC H3G 1A6, Canada
  1. Correspondence to Dr Frank Rauch, Shriners Hospitals for Children Canada, Montreal, QC H4A 0A9, Canada; frauch{at}shriners.mcgill.ca

https://doi.org/10.1136/jmedgenet-2019-106634

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    The field of bone dysplasias can be daunting, as more than 400 separate disorders have been identified. The clinical diagnosis usually requires recognising image patterns on skeletal radiographs. This can be a challenge as most of these disorders are extremely rare, and even experienced clinicians will have seen only a fraction of these disorders. This is where the Bone Dysplasia Atlas can be extremely helpful. With thousands of X-ray images and clinical pictures …

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    Footnotes

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; internally peer reviewed.