Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

AJNR Am J Neuroradiol. 2013 Jun-Jul;34(6):1257-63. doi: 10.3174/ajnr.A3367. Epub 2012 Dec 13.


Background and purpose: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients.

Materials and methods: Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only.

Results: Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13).

Conclusions: In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cochlea / abnormalities
  • Cochlea / diagnostic imaging
  • Cochlea / pathology
  • Cochlear Nerve / abnormalities
  • Cochlear Nerve / diagnostic imaging
  • Cochlear Nerve / pathology
  • Diagnosis, Differential
  • Ear, Inner / abnormalities*
  • Ear, Inner / diagnostic imaging
  • Ear, Inner / pathology
  • Female
  • Hearing Loss, Sensorineural / diagnostic imaging
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Olfactory Bulb / abnormalities
  • Olfactory Bulb / diagnostic imaging
  • Olfactory Bulb / pathology
  • Parotid Gland / abnormalities
  • Parotid Gland / diagnostic imaging
  • Parotid Gland / pathology
  • Radiography
  • Retrospective Studies
  • SOXE Transcription Factors / genetics*
  • Semicircular Canals / abnormalities
  • Semicircular Canals / diagnostic imaging
  • Semicircular Canals / pathology
  • Temporal Bone / abnormalities*
  • Temporal Bone / diagnostic imaging
  • Temporal Bone / pathology
  • Waardenburg Syndrome / diagnostic imaging
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology*
  • Young Adult


  • SOX10 protein, human
  • SOXE Transcription Factors

Supplementary concepts

  • Waardenburg syndrome type 2