[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.