FBN1 and congenital contractural arachnodactyly: In this last disease, FBN1 mutations mainly positioned between the central exons 24–32, displays the following clinical features: arachnodactyly, campodactyly (congenital contractures of elbow, wrists, digits and toes; Table 1), micrognathia, crumpled ears, rocker bottom feets (arachnodactytly, overlapping toes and hypoplasia of calf muscles), loose redundant skin creating a senile look of the facies, severe cardiac valve insufficiency and aortic dilatation (Buntinx et al., 1991).