In addition, three patients (2%; #P39, #P40 and #P41 in Table 2) were found to be compound heterozygous or homozygous for variants in SLC26A4, related with either Pendred syndrome or autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct, although the clinical signs usually associated with Pendred syndrome as temporal bone abnormalities and euthyroid goiter could not be clinically confirmed. This evidence concerns the gene SLC26A4 and Pendred syndrome.