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.
Talbot JM, Wilson DE Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher.
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.
X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.
Osteogenesis imperfecta (fragilitas ossium) is an inherited connective tissue disorder characterized by osteoporosis, blue sclera, poor dentition, and mixed deafness