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A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics

  • Musculoskeletal imaging
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Abstract

This article simplifies the radiologic diagnosis of skeletal dysplasia by first presenting an ordered approach for analysis of standard radiographs done for skeletal dysplasias. With that foundation, a more detailed discussion of three separate families of skeletal disorders follows. Similarities among dysplasia group members are discussed to provide a certain connectedness among dysplasias. The paper also elucidates the scientific basis behind the radiographic findings so that previously purely descriptive terms have the weight of understanding behind them.

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Authors and Affiliations

  1. Department of Radiology, Rady Children’s Hospital and Health Center, 3020 Children’s Way, San Diego, CA, 92123, USA

    Jerry R. Dwek

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  1. Jerry R. Dwek
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Correspondence to Jerry R. Dwek.

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Dwek, J.R. A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics. Pediatr Radiol 49, 1576–1586 (2019). https://doi.org/10.1007/s00247-019-04545-8

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  • DOI: https://doi.org/10.1007/s00247-019-04545-8

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