Tortícolis congénita progresiva en el síndrome VATER asociado. (I)

Abstract:

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.