Johanson-Blizzard syndrome is a rare congenital autosomal recessive disease characterized by the association of congenital deficiency of the exocrine pancreatic function and multiple malformations. One of the most common manifestations of this pathology is sensorineural hearing loss of different severity and anomalous development of the inner ear. The case of cochlear implantation in the patient presenting with bilateral sensorineural deafness, congenital malformation of the inner ear, and stenosis of the internal auditory canal is reported.

Download full-text PDF

Source

Publication Analysis

Top Keywords

inner ear
8
[johanson-blizzard syndrome
4
syndrome audiological
4
audiological features
4
features cochlear
4
cochlear implantation]
4
implantation] johanson-blizzard
4
johanson-blizzard syndrome
4
syndrome rare
4
rare congenital
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!