The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients.

Objective: This study aimed to investigate the prevalence of GJB2 gene for the 235delC mutations, the clinical features and the outcomes of patients who had undergone cochlear implantation.

Methods: We have sequenced the coding region of GJB2 gene for 135 patients with sensorineural deaf from September 2000 to May 2009. Of the 135 patients, the patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E were detected and were investigated clinically.

Involvement of the incudostapedial joint anomaly in conductive deafness.

Conclusion: The outcome of surgery depends on complexities of middle ear anomalies and definite diagnosis can only be achieved during exploratory tympanotomy. We must be aware that the pathology of the congenital ossicular anomalies is variable and careful surgery is needed for hearing improvement.

Objective: This study aimed to investigate congenital ossicular malformation.