Narrative medicine and medical narratives : Marfan syndrome between definition, description and narration

This study examines the interconnection between narratives, descriptions and definitions in reports on Marfan syndrome. A so-called rare disease, this syndrome is little known and may be difficult to recognize and diagnose. Following an interdisciplinary approach, the doctor’s view on narrative medicine and the linguist’s view on medical narratives are brought together. Four seminal reports on the condition are analysed, starting from the 1896 one that first described and defined the syndrome. The cases examined show how Marfan’s syndrome has, in the course of history, been described employing narrative elements, which may have led experts to taking the sets of variable signs characterizing it as definitory and not as descriptive, hence delaying the prompt recognition of new cases. The cooperation between linguistic theory and medical practice is thought to prove of help in speeding up diagnoses.