X-linked mixed deafness
with congenital fixation of the stapedial footplate and perilymphatic gusher.
One year after initial presentation, the patient had bilateral mixed deafness
of both low and high frequencies; thus HDR syndrome was considered, and genetic testing was performed for definitive diagnosis.
Distribution as per Type of Deafness Type of Deafness Sensory Neural Deafness 55 Conductive Deafness 9 Mixed Deafness
4 Normal Hearing 4 Note: Table made from bar graph.
3 Percent) of patients with pure sensory neural hearing loss, and 27 (20 Percent) cases had mixed deafness.
Hearing loss as confirmed by PTA was found in 89 Percent of otological trauma with 76 cases of conductive hearing loss, 18 with pure sensory neural and 27 with mixed deafness.
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.
In the absence of a family history of X-linked mixed deafness syndrome, surgeons may have difficulty determining if a patient is at risk preoperatively.
The association between PG and X-linked mixed deafness syndrome has been recognized for many years.
In our study, patient 3 had been incorrectly reported as radiographically normal despite the presence of CT abnormalities consistent with X-linked mixed deafness syndrome.
Osteogenesis imperfecta (fragilitas ossium) is an inherited connective tissue disorder characterized by osteoporosis, blue sclera, poor dentition, and mixed deafness