Literature DB >> 17084468

A patient with tricho-rhino-phalangeal syndrome and mitral valve disease.

Stefanie C Robert, John P Cooper.   

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.

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Year:  2006        PMID: 17084468     DOI: 10.1016/j.ijcard.2006.08.011

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN: 0167-5273            Impact factor:   4.164


  1 in total

Review 1.  Rare monogenetic syndromes in rheumatology practice.

Authors:  K Manger; H Nüsslein; G Schett; B Manger
Journal:  Clin Rheumatol       Date:  2009-02-18       Impact factor: 2.980

  1 in total

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