Al Kaissi, Ali MD, MSc *; Chehida, Farid Ben MD +; Safi, Hatem MD *; Nassib, Nabil MD *; Ghachem, Maher Ben MD *; Gharbi, Hassan MD +; Grill, Franz MD ++
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.
Spine. 31(12):E376-E378, May 20, 2006.