title: Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.
abstract: OBJECTIVE
  To report the hearing impairment in a new autosomal recessive metabolic disorder due to a mutation in the ANKH gene and to report the outcomes of exploratory tympanotomy.
  
  
  METHODS
  Retrospective chart study.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  One large consanguineous family was examined. Three patients underwent exploratory tympanotomy.
  
  
  METHODS
  Exploratory tympanotomies in three patients.
  
  
  METHODS
  Medical and otological histories; postoperative hearing outcomes.
  
  
  RESULTS
  In the patients who received tympanotomies, a postoperative hearing gain of between 5 and 20 dB was noted, with a residual air-bone gap of between 6 and 35 dB (follow-up between 4 and 67 months). The sensorineural component of the hearing impairment varies greatly, between 4 and 23 dB, and this factor might also affect the final hearing outcome.
  
  
  CONCLUSIONS
  Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general. Based on anatomical findings, a congenital origin for the ossicular chain anomaly seems likely. It remains unclear whether the sensorineural component of the hearing impairment is progressive and this should be investigated further.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. H.Thomeer@kno.umcn.nl
authors.forename: H G X M
authors.initials: HG
authors.lastname: Thomeer
authors.forename: E
authors.initials: E
authors.lastname: Morava
authors.forename: B M
authors.initials: BM
authors.lastname: Verbist
authors.forename: C W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D002648:Child; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D034381:Hearing Loss / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000235:genetics; D006972:Hypertelorism / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008876:Middle Ear Ventilation / Q000379:methods*; D009154:Mutation; D010375:Pedigree; D028061:Phosphate Transport Proteins / Q000235:genetics*; D011859:Radiography; D012189:Retrospective Studies; D062606:Tertiary Care Centers; D016896:Treatment Outcome; D014421:Turkey; D055815:Young Adult
chemical_list: C498770:ANKH protein, human; D028061:Phosphate Transport Proteins