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Schwartz-Jampel syndrome associated with von Willebrand's disease

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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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References

  1. Aberfeld DC, Hinterbuchner LP, Schneider M (1965) Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 88:313–322

    Google Scholar 

  2. Ferranini E, Perniola T, Krajewska G, Selenga L, Trizio M (1982) Schwartz-Jampel syndrome with autosomal-dominant inheritance. Eur Neurol 21:137–146

    Google Scholar 

  3. Fowler WM Jr, Layzer RB, Taylor RG, Eberle ED, Sims GE, Munsat TL (1974) The Schwartz-Jampel syndrome: its clinical, physiological and histological expressions. J Neurol Sci 22:127–146

    Google Scholar 

  4. Fukui H, Yoshioka A, Mikami S, Takase T, Fujimura Y, Takahashi Y, Nishino M, Iwagaki K (1979) Pathophysiology of von Willebrand's disease: qualitative and quantitative analysis of von Willebrand protein. Acta Haematol Jpn 42:839–850

    Google Scholar 

  5. Kirschner BS, Pachman LM (1976) IgA deficiency and recurrent pneumonia in the Schwartz-Jampel syndrome. J Pediatr 88:1060–1061

    Google Scholar 

  6. Mollica F, Messina A, Stivala F, Pavone L (1979) Immuno-deficiency in Schwartz-Jampel syndrome. Acta Pediatr Scand 68:133–135

    Google Scholar 

  7. Osame M, Nakashima H, Murata K, Arima H, Imaguma M, Igata A (1977) Urinary glycosaminoglycans in Schwartz-Jampel syndrome and other neuromuscular diseases. Proceedings of the 11th World Congress of Neurology (Excerpta Medica International Congress Series no. 427). Excerpta Medica, Amsterdam, p 271

    Google Scholar 

  8. Schwartz O, Jampel RS (1962) Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 68:52–57

    Google Scholar 

  9. Seay AR, Ziter FA (1978) Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome. J Pediatr 93:83–84

    Google Scholar 

  10. Smith DL, Shoumaker R, Shuman R (1981) Compression myelopathy in the Schwartz-Jampel syndrome. Ann Neurol 10:497

    Google Scholar 

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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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  • DOI: https://doi.org/10.1007/BF00314041

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