title: Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study.
abstract: BACKGROUND
  Oculoauriculovertebral dysplasia (OAVD) (Goldenhar's syndrome) is a congenital syndrome with ipsilateral deformity of the ear and face, epibulbar lipodermoids, coloboma, and vertebral anomalies. Goldenhar's anomaly has often been associated with a degree of congenital hearing deficits, almost always of a conductive origin, but a sensorineural component is also suspected in some cases, evident through malformations of the inner ear.
  
  
  METHODS
  Both temporal bones of a 10-day-old deceased patient with oculoauriculovertebral dysplasia were examined by light microscopy.
  
  
  RESULTS
  The ear deformities included deformity of the auricle, atresia of the external auditory canal, and malformation of the tympanic cavity and ossicles. Abnormalities of the stria vascularis and the semicircular canals were also demonstrated. Further inner ear deformities were not identified in this case.
  
  
  CONCLUSIONS
  These histopathologic findings appear to confirm the conductive component of the congenital hearing deficit, but a sensorineural component could not be omitted. The ear alterations favor early developmental field defects. The causes of this condition are controversial. Recent results in genetic research pertaining to the MSX class genes permit better understanding of the variety, variability, and different degrees of severity of the anomalies described here.
authors.affiliation: Department of Otolaryngology, University of Innsbruck, Innsbruck, Austria.
authors.forename: A W
authors.initials: AW
authors.lastname: Scholtz
authors.forename: J H
authors.initials: JH
authors.lastname: Fish
authors.forename: K
authors.initials: K
authors.lastname: Kammen-Jolly
authors.forename: H
authors.initials: H
authors.lastname: Ichiki
authors.forename: B
authors.initials: B
authors.lastname: Hussl
authors.forename: A
authors.initials: A
authors.lastname: Kreczy
authors.forename: A
authors.initials: A
authors.lastname: Schrott-Fischer
mesh_terms: D006053:Goldenhar Syndrome / Q000175:diagnosis*; D006314:Hearing Loss, Conductive / Q000151:congenital* / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D012665:Semicircular Canals / Q000002:abnormalities; D012720:Severity of Illness Index; D013316:Stria Vascularis / Q000473:pathology; D013701:Temporal Bone / Q000473:pathology*