Abstract
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive hereditary disorder characterized by multi-system involvement and facial dysmorphic features. One of the most common symptoms in JBS patients is bilateral severe to profound sensorineural hearing loss. The objective of this report is to highlight the performance of those patients after receiving cochlear implants (CI) as a management for their hearing loss. In this study, we reviewed the medical records of one female child diagnosed with JBS before and after cochlear implantation, with a particular focus on their auditory and language performance. After receiving the cochlear implant, our patient showed substantial improvement in her hearing threshold and communication abilities when compared to the preoperative condition. In conclusion, although cochlear implantation is considered a good approach for the management of JBS patients, the development of spoken language is not always achieved.