Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias

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.