Diagnostic use of skeletal survey in suspected skeletal dysplasia.

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.