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Every bone tells a story: structured radiologic reporting of skeletal dysplasia
Ishan Kumar1, Priyanka Aggarwal2, Ankur Singh2
1Department of Radiodiagnosis and Imaging, Institute of Medical Sciences, Banaras Hindu University, Varanasi 221005, India.
Abstract:
Skeletal dysplasias constitute a heterogeneous assemblage of over 770 genetically determined disorders. The 2023 revision of the classification of Genetic Skeletal Disorders represents a seminal advancement, integrating radiologic phenotypes with molecular and biochemical information to accommodate the expanding complexity of skeletal pathology. Radiologists remain indispensable in elucidating these conditions, as imaging phenotypes continue to underpin the delineation of these disorders. This review discusses the intricate radiologic manifestations of skeletal dysplasias within the framework of the current classification, advocating for the adoption of a structured radiological reporting.
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