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The radiologic diagnosis of skeletal dysplasias: past, present and future

Authors
  • Offiah, Amaka C.1
  • Hall, Christine M.2
  • 1 University of Sheffield, Western Bank, Sheffield, S10 2TH, UK , Sheffield (United Kingdom)
  • 2 University College London, London, UK , London (United Kingdom)
Type
Published Article
Journal
Pediatric Radiology
Publisher
Springer-Verlag
Publication Date
Nov 02, 2020
Volume
50
Issue
12
Pages
1650–1657
Identifiers
DOI: 10.1007/s00247-019-04533-y
Source
Springer Nature
Keywords
License
Green

Abstract

Skeletal dysplasias have been recognised since recorded history began. The advent of radiography at the beginning of the 20th century and the subsequent introduction of departments of radiology have had tremendous impact and allowed conditions to be identified by their specific radiographic phenotypes. This has been enhanced by the addition of cross-sectional modalities (ultrasound, computed tomography and magnetic resonance imaging), which have allowed for prenatal recognition and diagnosis of skeletal dysplasias, and by the recent explosion in identified genes. There are more than 400 recognised skeletal dysplasias, many of which (due to their rarity) the practising clinician (radiologist, paediatrician, geneticist) may never come across. This article provides a historical overview of aids to the radiologic diagnosis of skeletal dysplasias.

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