Diagnostic use of skeletal survey in suspected skeletal dysplasia

Abstract

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 x-rays 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. Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. All rights reserved.