[Ballooning mitral valve in tricho-rhino-phalangeal syndrome (author's transl)].
The ballooning mitral valve defect has been repeatedly found in hereditary disorders of connective tissue such as the Marfan syndrome, osteogenesis imperfecta and the Ullrich-Turner syndrome. The present report concerns a nine year old girl with tricho-rhino-phalangeal dysplasia type I and this peculiar anomaly of the mitral valve. Since a literature review disclosed two more cases with tricho-rhinophalangeal dysplasia I and mitral insufficiency, the association may be more than fortuitous. Apparently the mesenchymal changes in tricho-rhino-phalangeal dysplasia I are not limited to the skeletal system.
D000015:Abnormalities, Multiple / Q000150:complications* / Q000000981:diagnostic imaging; D002648:Child; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D008943:Mitral Valve / Q000002:abnormalities*; D008944:Mitral Valve Insufficiency / Q000150:complications / Q000175:diagnosis; D011859:Radiography; D013577:Syndrome
Ballonierende Mitralklappe bei Tricho-rhino-phalangealem Syndrom I