title: A patient with Marfan's syndrome and neurofibromatosis type 1 with polyneuropathy.
abstract: Both Marfan's syndrome and neurofibromatosis type 1 are hereditary, autosomal dominant conditions. Here, we report the rare case of a patient fulfilling the clinical criteria for both diseases. In the absence of a family history of either of the two conditions, two independent de novo mutations are the most likely cause.
authors.affiliation: Department of Neurology, University of Tübingen Medical School, Tübingen, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Hartlapp
authors.forename: U
authors.initials: U
authors.lastname: Bühring
authors.forename: J
authors.initials: J
authors.lastname: Dichgans
authors.forename: S
authors.initials: S
authors.lastname: Isenmann
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications* / Q000473:pathology; D009431:Neural Conduction / Q000187:drug effects; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D011115:Polyneuropathies / Q000150:complications* / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology