FBN2 and Menkes disease: Variants in FBN2 have been reported to associated with congenital contractural arachnodactyly (CCA) (Putnam et al., 1995) and early-onset macular degeneration (MD) (Ratnapriya et al., 2014), whereas the proband's mother and sister who carried the heterozygous missense variant (c.2432T>C, p.I811T) in FBN2 didn't have any phenotypes of CCA or MD.