Literature DB >> 3873520

Schwartz-Jampel syndrome associated with von Willebrand's disease.

M Kuriyama, K Shinmyozu, M Osame, M Kawahira, A Igata.   

Abstract

We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand'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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Year:  1985        PMID： 3873520     DOI： 10.1007/bf00314041

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  9 in total

1.  Congenital blepharophimosis associated with a unique generalized myopathy.

Authors:  O SCHWARTZ; R S JAMPEL
Journal:  Arch Ophthalmol       Date:  1962-07

2.  Letter: IgA deficiency and recurrent pneumonia in the Schwartz-jampel syndrome.

Authors:  B S Kirschner; L M Pachman
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406

3.  The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions.

Authors:  W M Fowler; R B Layzer; R G Taylor; E D Eberle; G E Sims; T L Munsat; M Philippart; B W Wilson
Journal:  J Neurol Sci       Date:  1974-05       Impact factor: 3.181

4.  Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).

Authors:  D C Aberfeld; L P Hinterbuchner; M Schneider
Journal:  Brain       Date:  1965-06       Impact factor: 13.501

5.  Compressive myelopathy in the Schwartz-Jampel syndrome.

Authors:  D L Smith; R Shoumaker; R Shuman
Journal:  Ann Neurol       Date:  1981-11       Impact factor: 10.422

6.  Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome.

Authors:  A R Seay; F A Ziter
Journal:  J Pediatr       Date:  1978-07       Impact factor: 4.406

7.  Pathophysiology of von Willebrand's disease: Qualitative and quantitative analysis of von Willebrand protein.

Authors:  H Fukui; A Yoshioka; S Mikami; T Takase; Y Fujimura; Y Takahashi; M Nishino; K Iwagaki
Journal:  Nihon Ketsueki Gakkai Zasshi       Date:  1979-12

8.  Schwartz-Jampel syndrome with autosomal-dominant inheritance.

Authors:  E Ferrannini; T Perniola; G Krajewska; L Serlenga; M Trizio
Journal:  Eur Neurol       Date:  1982       Impact factor: 1.710

9.  Immuno-deficiency in Schwartz-Jampel syndrome.

Authors:  F Mollica; A Messina; F Stivala; L Pavone
Journal:  Acta Paediatr Scand       Date:  1979-01
  9 in total

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