A 5-year-old boy presented with profound bilateral deafness. At the age of 3 years, he had been diagnosed as having a conductive hearing loss and had undergone a grommet insertion procedure. His hearing and language did not improve despite the use of a hearing aid, and he was assessed for a cochlear implant.
Clinical assessment showed a language and communication delay and severe profound mixed hearing loss in both ears. Genetic assessment revealed a number of genes on the X chromosome in the area of the breakpoint that can cause deafness.