Radiological malformations of the ear in Pendred syndrome
PD Phelps, RA Coffey, RC Trembath, LM Luxon… - Clinical radiology, 1998 - Elsevier
Pendred syndrome comprises the association of severe congenital sensorineural deafness
with thyroid pathology. Although it is the commonest form of syndromic hearing loss, the
primary genetic defect remains unknown. The variable clinical presentation allied to the
difficulty in securing the diagnosis have resulted in relatively poor documentation of the
radiological features of this syndrome. We now present data on 40 patients, all complying
with strict diagnostic criteria for the disorder, and describe our experience of the prevalence …
with thyroid pathology. Although it is the commonest form of syndromic hearing loss, the
primary genetic defect remains unknown. The variable clinical presentation allied to the
difficulty in securing the diagnosis have resulted in relatively poor documentation of the
radiological features of this syndrome. We now present data on 40 patients, all complying
with strict diagnostic criteria for the disorder, and describe our experience of the prevalence …