A patient with tricho-rhino-phalangeal syndrome and mitral valve disease.
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.
Robert
Stefanie C
SC
Cooper
John P
JP
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