Williams syndrome with a "twist"

Case Rep Med. 2010:2010:726845. doi: 10.1155/2010/726845. Epub 2010 Jun 16.

Abstract

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.

Publication types

  • Case Reports