title: Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Departments of Pediatric Imaging, Hôpital Robert Debré, Paris, France. monique.elmaleh@rdb.aphp.fr
authors.forename: M
authors.initials: M
authors.lastname: Elmaleh-Bergès
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.forename: N
authors.initials: N
authors.lastname: Noël-Pétroff
authors.forename: A
authors.initials: A
authors.lastname: Sekkal
authors.forename: V
authors.initials: V
authors.lastname: Couloigner
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: M
authors.initials: M
authors.lastname: Wilson
authors.forename: S
authors.initials: S
authors.lastname: Marlin
authors.forename: G
authors.initials: G
authors.lastname: Sebag
authors.forename: V
authors.initials: V
authors.lastname: Pingault
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D003056:Cochlear Nerve / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D007758:Ear, Inner / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009830:Olfactory Bulb / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D010306:Parotid Gland / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D012189:Retrospective Studies; D055757:SOXE Transcription Factors / Q000235:genetics*; D012665:Semicircular Canals / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D013701:Temporal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D014849:Waardenburg Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors