Article
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Orphanet journal of rare diseases - 2 Nov 2009
Drera Bruno, Ritelli Marco, Zoppi Nicoletta, Wischmeijer Anita, Gnoli Maria, Fattori Rossella, Calzavara-Pinton Pier Giacomo, Barlati Sergio, Colombi Marina
Abstract excerpt
BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity with widespread vascular aneurysm and dissection, and have a high risk of aortic dissection or rupture at an early age and at aortic diameters that ordinarily are not predictive of these events....
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