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Praxis (Bern 1994). 2013 Nov 27;102(24):1483-8. doi: 10.1024/1661-8157/a001496.

[Marfan syndrome and related connective tissue disorders].

[Article in German]

Author information

  • 1Institut für Medizinische Genetik, Universität Zürich, Schlieren.

Abstract

in English, French, German

Marfan syndrome is an autosomal dominantly inherited connective tissue disorder with a prevalence of approximately 1:5000 people. Typical manifestations affect the cardiovascular system, eyes, skeleton, lungs, skin and dura mater. Most patients have a so-called marfanoid habitus with tall stature, long and narrow limbs, a long and narrow head shape and other skeletal abnormalities. Of particular medical importance are the possible complications such as severe scoliosis or pectus excavatum, spontaneous pneumothorax, retinal detachment, or an acute glaucoma evoked by lens luxation. However, the most dangerous complication is acute dissection of the ascending aorta, which is usually the result of a slowly progressive aortic dilatation. With the introduction of therapies the average life expectancy of previously just 32 years could be raised to above 60 years.

KEYWORDS:

Aortendissektion; Loeys-Dietz syndrome; Loeys-Dietz-Syndrom; Marfan syndrome; Marfan-Syndrom; Netzhautablösung; Skoliose; aortic dissection; dissection aortique; décollement de rétine; retinal detachment; scoliose; scoliosis; syndrome de Loeys-Dietz; syndrome de Marfan

PMID:
24280605
[PubMed - indexed for MEDLINE]
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