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Semin Musculoskelet Radiol 2018; 22(01): 066-080
DOI: 10.1055/s-0037-1608005
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities

Anh-Vu Ngo
1   Department of Radiology, Seattle Children's Hospital, Seattle, Washington
,
Mahesh Thapa
1   Department of Radiology, Seattle Children's Hospital, Seattle, Washington
,
Jeffrey Otjen
1   Department of Radiology, Seattle Children's Hospital, Seattle, Washington
,
Shawn E. Kamps
1   Department of Radiology, Seattle Children's Hospital, Seattle, Washington
› Author Affiliations
Further Information

Publication History

Publication Date:
06 February 2018 (online)

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Abstract

Skeletal dysplasia is a heterogeneous group of abnormalities affecting growth and development of bone and cartilage characterized by disproportionate shortening of the limbs and/or spine. A systematic radiographic approach combined with pertinent clinical details can help guide specific genetic testing and treatment. We provide a discussion and examples of a few common and notable skeletal dysplasias to help familiarize general, pediatric, and musculoskeletal radiologists who do not commonly encounter children with these entities in their daily practices.

Keywords

skeletal dysplasia - achondroplasia - thanatophoric dysplasia - Kniest syndrome - Ollier disease - multiple hereditary exostoses - dysostosis multiplex - osteogenesis imperfecta - pseudoachondroplasia - Jeune syndrome - cleidocranial dysplasia
 

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