title: Cochlear implantation in Donnai-Barrow syndrome.
abstract: OBJECTIVE
  Donnai-Barrow syndrome is a rare autosomal recessive disorder associated with severe sensorineural hearing loss (SNHL). Several ocular abnormalities have also been described in this syndrome, including hypertelorism, down-slanting palpebral fissures, myopia and retinal detachment. The condition is also associated with diaphragmatic hernia, exomphalos, absent corpus callosum and developmental delay. We describe the first recorded case of cochlear implantation in this rare disorder.
  
  
  METHODS
  This case of Donnai-Barrow syndrome was identified from our paediatric cochlear implant database. A case-note review was performed identifying patient demographics, operative findings and surgical outcome. In addition, pre- and post-operative auditory and communication performance was analysed.
  
  
  METHODS
  The child initially received a right cochlear implant at 39 months of age, but unfortunately the device failed 4 years post-operatively. Subsequently, bilateral simultaneous cochlear implantation was performed. BKB scores were 98% for bilateral implant use when tested 2 years post-operatively. Individual testing revealed a score of 94% for the right ear alone, and 80% for the left. The child achieved a 100% score on sound localisation testing using 3 speakers.
  
  
  CONCLUSIONS
  Donnai-Barrow syndrome is a rare cause of SNHL compounded by the potential for visual impairment. To our knowledge this is the first report of cochlear implantation to rehabilitate hearing loss in this condition.
authors.affiliation: Manchester Royal Infirmary, UK. ia.bruce@tiscali.co.uk
authors.forename: Iain A
authors.initials: IA
authors.lastname: Bruce
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Broomfield
authors.forename: Lise
authors.initials: L
authors.lastname: Henderson
authors.forename: Kevin M J
authors.initials: KM
authors.lastname: Green
authors.forename: Richard T
authors.initials: RT
authors.lastname: Ramsden
mesh_terms: D061085:Agenesis of Corpus Callosum; D001309:Auditory Threshold; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods; D003054:Cochlear Implants; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000601:surgery; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000601:surgery*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007804:Language Development; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009216:Myopia / Q000175:diagnosis* / Q000601:surgery; D011182:Postoperative Care / Q000379:methods; D011475:Prosthesis Failure; D011507:Proteinuria / Q000175:diagnosis* / Q000601:surgery; D011788:Quality of Life; D015499:Renal Tubular Transport, Inborn Errors; D012086:Reoperation / Q000379:methods; D013067:Speech Perception / Q000502:physiology*; D016896:Treatment Outcome