title: A patient with tricho-rhino-phalangeal syndrome and mitral valve disease.
abstract: We describe the case of a 33 year old man with Tricho-Rhino-Phalangeal Syndrome (TRPS) and mitral valve disease. Tricho-Rhino-Phalangeal Syndrome is a rare multisystem disorder. The English literature has no record of any association with mitral valve disease which was a feature of our patient and his father both of whom were suffering from the syndrome. Doctors looking after patients with that condition should be alert to this possible association.
authors.forename: Stefanie C
authors.initials: SC
authors.lastname: Robert
authors.forename: John P
authors.initials: JP
authors.lastname: Cooper
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities*; D008944:Mitral Valve Insufficiency / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome