Review
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World J Radiol. Oct 28, 2014; 6(10): 808-825
Published online Oct 28, 2014. doi: 10.4329/wjr.v6.i10.808
Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias
Ananya Panda, Shivanand Gamanagatti, Manisha Jana, Arun Kumar Gupta
Ananya Panda, Shivanand Gamanagatti, Manisha Jana, Arun Kumar Gupta, Department of Radiodiagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
Author contributions: Panda A and Gamanagatti S contributed equally to conception, article design, literature search, article drafting, critical revision and image preparation; Jana M helped with the article concept, revision literature search and image preparation; Gupta AK helped in images procurement, preparation and final approval of version of article to be published.
Correspondence to: Shivanand Gamanagatti, Additional Professor, Department of Radiodiagnosis, All India Institute of Medical Sciences, Room no 81-B, Ansari Nagar, New Delhi 110029, India. shiv223@rediffmail.com
Telephone: +91-986-8658057 Fax: +91-986-8398508
Received: May 16, 2014
Revised: July 2, 2014
Accepted: August 27, 2014
Published online: October 28, 2014
Processing time: 161 Days and 4 Hours
Abstract

Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient.

Keywords: Skeletal dysplasia; Short limb dwarfism; Rhizomelia; Radiograph; Skeletal survey; Review; Spondylopepiphyseal dysplasia; Multiple epiphyseal dysplasia; Achondroplasia; Algorithm; Approach

Core tip: This article describes the radiographic approach to skeletal dysplasias, reviews the essential radiographic features of various non-lethal epiphyseal, metaphyseal, diaphyseal, osteopenic and sclerosing dysplasias and also describes features to differentiate these entities from other similar dysplasias. In summary, working algorithms for diagnosis of common skeletal dysplasias have also been provided.