Pediatric Radiology

, Volume 49, Issue 12, pp 1576–1586 | Cite as

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

  • Jerry R. DwekEmail author
Musculoskeletal imaging


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.


Children Dysplasia Molecular genetics Radiography Skeleton 


Compliance with ethical standards

Conflicts of interest



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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of RadiologyRady Children’s Hospital and Health CenterSan DiegoUSA

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