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Pediatric Radiology
Published in: Pediatric Radiology 12/2019

01-11-2019 | Achondroplasia | Musculoskeletal imaging

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

Author: Jerry R. Dwek

Published in: Pediatric Radiology | Issue 12/2019

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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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Metadata
Title
A framework for the radiologic diagnosis of skeletal dysplasias and syndromes as revealed by molecular genetics
Author
Jerry R. Dwek
Publication date
01-11-2019
Publisher
Springer Berlin Heidelberg
Keyword
Achondroplasia
Published in
Pediatric Radiology / Issue 12/2019
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-019-04545-8

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