P4 was also diagnosed to have Marfan syndrome due to carrying a known disease causing mutation in FBN1 gene (NM_000138, heterozygous c.7240C > T/p.Arg2414Ter, HGMD CM020137), having typical features (congenital heart disease with VSD with mitral valve regurgitation, and arachnodactyly), and positive family history (mother and maternal grandmother) (Loeys et al., 2010). Here, FBN1 is linked to congenital contractural arachnodactyly.