Syndromic Hearing Loss in Children

Detailed analysis of inner ear malformations in CHARGE syndrome patients – correlation with audiological results and proposal for computed tomography scans evaluation methodology

“…More than 1000 mutation variants that can cause CHARGE syndrome have been identified. 6 , 8 , 9 , 10 , 11 , 12 In this study, six analyzed patients underwent genetic testing confirming the gene mutations. Four were not analyzed genetically due to parents' no agreement with these tests but presented typical specific and recognizable patterns of CHARGE anomalies.…”