Mutations in the SLC26A4 gene are involved in syndromic deafness featured on congenital sensorineural hearing impairment and goiter (Pendred syndrome, OMIM 274600) [7] as well as in congenital isolated deafness (DFNB4; OMIM 600791), both of which are relevant to an enlarged vestibular aqueduct (EVA) [8]. This evidence concerns the gene SLC26A4 and goiter.