Bert L Callewaert, Bart L Loeys, Anna Ficcadenti, Sascha Vermeer, Magnus Landgren, Hester Y Kroes, Yuval Yaron, Michael Pope, Nicola Foulds, Odile Boute, Francisco Galán, Helen Kingston, Nathalie Van der Aa, Iratxe Salcedo, Marielle E Swinkels, Carina Wallgren-Pettersson, Orazio Gabrielli, Julie De Backer, Paul J Coucke, Anne M De Paepe
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 gene (FBN2) with 26 mutations reported so far, all located in the middle region of the gene (exons 23-34)...
March 2009: Human Mutation