Schwartz-Jampel syndrome associated with von Willebrand's disease

Summary

We report a very rare case of Schwartz-Jampel syndrome associated with von Willibrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affected gene.

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Correspondence to M. Kuriyama.

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Kuriyama, M., Shinmyozu, K., Osame, M. et al. Schwartz-Jampel syndrome associated with von Willebrand's disease. J Neurol 232, 49–51 (1985). https://doi.org/10.1007/BF00314041

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Key words

  • Schwartz-Jampel syndrome
  • von Willibrand's disease
  • Genetic link