Article
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Human mutation - 1 Mar 2009
Callewaert Bert L, Loeys Bart L, Ficcadenti Anna, Vermeer Sascha, Landgren Magnus, Kroes Hester Y, Yaron Yuval, Pope Michael, Foulds Nicola, Boute Odile, Galán Francisco, Kingston Helen, Van der Aa Nathalie, Salcedo Iratxe, Swinkels Marielle E, Wallgren-Pettersson Carina, Gabrielli Orazio, De Backer Julie, Coucke Paul J, De Paepe Anne M
Abstract excerpt
Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from Marfan syndrome (MFS). In many cases, the condition is caused by mutations in the fibrillin 2...
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