3. The current role of skeletal survay in children with suspected skeletal dysplasia

Abstract

The purpose of this mini review is to emphasize the importance of skeletal survey, its position in the diagnostic algorithm of skeletal dysplasia (SD), and the importance of its systematic analysis. Skeletal survey, the series of plain radiographic bone imaging, is still the first line imaging method in children with suspected SD, despite fast developing gene and biochemical methods. SDs are a genetically heterogeneous group of disorders affecting skeletal development, with a wide clinical spectrum. The diagnosis of a SD is usually based on a combination of clinical, radiological, morphological, and lately biochemical and molecular studies, which enable more extensive insight into the genes controlling normal skeletal development and lead to more adequate genetic counselling. Standardised imaging protocols of skeletal survey help radiologists to plan and optimize an appropriate imaging series, reduce radiation dose from unnecessary exposure, and facilitate earlier diagnosis. Since 1970 the International Nomenclature of Constitutional Diseases of Bones has been developed and updated at regular intervals (last reclassification in 2015). Reclassifications are based on new insights into gene and/or protein, molecular defects. A multidisciplinary approach is necessary due to the considerable heterogeneity. An accurate diagnosis is essential for proper management of the affected individual and for genetic counselling. Various endocrine and metabolic diseases affecting bones should be considered in differential diagnosis. Conclusion – A systemic approach to skeletal survey imaging analysis in children with suspected SD is crucial to avoid missing important details regarding the morphological or structural features of the bones, which may lead to a false diagnosis of SD.