Progressive congenital torticollis in VATER association syndrome.

STUDY DESIGN

A family study to reach the diagnosis of a multiple malformation syndrome.

OBJECTIVE

To determine the cause of torticollis, in a patient with the VATER association.

SUMMARY OF BACKGROUND DATA

The VATER association is a combination of vertebral anomalies, anal stenosis, tracheo-esophageal fistula, and radial anomalies. It needs a multidisciplinary approach with a major input from orthopedic surgeons. Torticollis in this condition has not been reported before.

METHODS

Detailed family history and radiologic study using plain radiographs and three-dimensional-reconstruction.

RESULTS

Bony abnormalities at the base of the skull and upper cervical vertebrae were found.

CONCLUSIONS

It is postulated that the bony abnormalities were the underlying cause of the neurologic problem.