Schwartz-Jampel syndrome associated with von Willebrand's disease.
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.
D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis; D014842:von Willebrand Diseases / Q000150:complications* / Q000175:diagnosis