Skeletal Dysplasias: Radiologic Approach with Common and Notable Entities

Anh-Vu Ngo; Mahesh Thapa; Jeffrey Otjen; Shawn E. Kamps

doi:10.1055/s-0037-1608005

Seminars in Musculoskeletal Radiology, Table of Contents

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

¹Department of Radiology, Seattle Children's Hospital, Seattle, Washington

,

Mahesh Thapa

¹Department of Radiology, Seattle Children's Hospital, Seattle, Washington

,

Jeffrey Otjen

¹Department of Radiology, Seattle Children's Hospital, Seattle, Washington

,

Shawn E. Kamps

¹Department of Radiology, Seattle Children's Hospital, Seattle, Washington

› Author Affiliations

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

Full Text

References

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