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Clinical Problem Solving: Radiology
December 2004

Radiology Quiz Case 3

Author Affiliations
 

NICK R.BRYANMDPATRICIA A.HUDGINSMD

Arch Otolaryngol Head Neck Surg. 2004;130(12):1444. doi:10.1001/archotol.130.12.1444

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.

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