Williams Syndrome with Multiple Cervical Vertebral Fusion Presenting Dysphagia: A Case Report / 대한연하장애학회지

ABSTRACT

Williams syndrome is a multiple-system disorder, caused by deletion of the locus 7q11-23 gene and characterized by an ‘elfin’ facial appearance, developmental delay, cardiovascular disorders, and transient hypercalcemia. Vertebral abnormalities in Williams syndrome have not been reported yet, except for one case report on cervical stenosis at the C1 level. In this case, the authors incidentally found Williams syndrome with the fusion of the fifth and sixth cervical vertebrae and an associated dysphagia showing delayed, forward-deviating esophageal passage during a videofluoroscopic swallowing study. The authors could not confirm whether the multiple cervical vertebrae fusion was related with the Williams syndrome or was just incidental. However, because physiatrists frequently encounter children with Williams syndrome and numerous kinds of developmental delay, if a patient with Williams syndrome suffers from swallowing difficulty, evaluation of dysphagia and cervical abnormalities should be considered. The present authors report the case of multiple cervical vertebral fusion in Williams syndrome.