Williams Syndrome with a “Twist”

نویسندگان

  • Despoina Maritsi
  • Lydia Kossiva
  • George Vartzelis
چکیده

Williams syndrome is a rare genetic condition with multisystemic involvement, caused by a microscopic deletion in the chromosome band 7q11.23. We describe the first case of a toddler with Williams syndrome who developed Benign Paroxysmal Torticollis (BPT), a benign dystonic disorder of unknown aetiology.

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عنوان ژورنال:

دوره 2010  شماره 

صفحات  -

تاریخ انتشار 2010