Diagnostic use of skeletal survey in suspected skeletal dysplasia

<p><b>Objective:</b> To review the practice of skeletal surveys in cases of suspected skeletal dysplasia.</p> <p><b>Methods:</b> Retrospective review of records of patients with suspected skeletal dysplasia between December 1997 and December 2005.</p> <p><b>Results:</b> 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.</p> <p><b>Conclusion:</b> 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.</p&gt