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Schwartz-Jampel syndrome associated with von Willebrand's disease

✍ Scribed by M. Kuriyama; K. Shinmyozu; M. Osame; M. Kawahira; A. Igata


Publisher
Springer
Year
1985
Tongue
English
Weight
494 KB
Volume
232
Category
Article
ISSN
0340-5354

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We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial abnormalities, arthropathy, deafness, and eye findings, all of whom were discovered to have a mild bleeding diathesis and coagulation-study findings consistent with mild von