Diagnostic use of skeletal survey in suspected skeletal dysplasia

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Objective: To review the practice of skeletal surveys in cases of suspected skeletal dysplasia. Methods: Retrospective review of records of patients with suspected skeletal dysplasia between December 1997 and December 2005. Results: A diagnosis of a specific skeletal dysplasia was reached in 155 out of a total of 285 suspected cases (54%). In 260 (91%), a record of radiological examination was available and out of these cases, 91 (35%) had a full skeletal survey. A diagnosis was reached in 79% of cases that had a full skeletal survey and in 44% of cases that had a limited survey. A possible skeletal dysplasia was excluded in 44 out of 260 (17%) cases. In 79 out of 260 (30%) cases, skeletal abnormalities were present but a clear diagnosis could not be reached. Over the period of study, there was no clear change in the practice of performing xrays and the rate of reaching a diagnosis. Conclusion: A clear diagnosis of skeletal dysplasia is not possible in a third of cases and there is a need for greater access to multidisciplinary input. Conflict of interest:None declared.




Veeramani, A. K. I., Higgins, P., Butler, S., Donaldson, M., Dougan, E., Duncan, R., … Ahmed, S. F. (2009). Diagnostic use of skeletal survey in suspected skeletal dysplasia. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 1(6), 270–274. https://doi.org/10.4274/jcrpe.v1i6.270

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