Progressive congenital torticollis in VATER association syndrome.

Abstract

A family study to reach the diagnosis of a multiple malformation syndrome. To determine the cause of torticollis, in a patient with the VATER association. 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. Detailed family history and radiologic study using plain radiographs and three-dimensional-reconstruction. Bony abnormalities at the base of the skull and upper cervical vertebrae were found. It is postulated that the bony abnormalities were the underlying cause of the neurologic problem.