title: Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.
abstract: OBJECTIVE
  To summarize the syndromic features and evaluate the presence of inner ear anomalies in 35 patients with branchio-oto-renal (BOR) syndrome from 6 families.
  
  
  METHODS
  Retrospective evaluation of magnetic resonance imaging of the temporal bones and clinical features in patients with BOR syndrome.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  The study population comprised 35 clinically affected patients with BOR syndrome from 6 families. Most of these families were followed for over 25 years.
  
  
  METHODS
  Twenty-four patients underwent high-resolution, heavily T2-weighted 3-dimensional magnetic resonance imaging of the temporal bones for evaluation of inner ear anomalies. Special attention was paid to the endolymphatic duct and sac.
  
  
  RESULTS
  A total of 7 enlarged endolymphatic ducts and sacs (3 bilaterally and 4 unilaterally) and 5 enlarged endolymphatic ducts only (2 bilaterally and 3 unilaterally) were observed. Eight hypoplastic cochleas and 6 hypoplastic labyrinths were seen bilaterally. Seven family members had normal inner ears.
  
  
  CONCLUSIONS
  These findings suggest that inner ear anomalies are frequent but nonobligatory features of BOR syndrome.
authors.affiliation: Department of Otorhinolaryngology, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands. M.Kemperman@kno.azn.nl
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Kemperman
authors.forename: Sacha M P
authors.initials: SM
authors.lastname: Koch
authors.forename: Frank B M
authors.initials: FB
authors.lastname: Joosten
authors.forename: Shrawan
authors.initials: S
authors.lastname: Kumar
authors.forename: Patrick L M
authors.initials: PL
authors.lastname: Huygen
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics / Q000473:pathology*; D002648:Child; D007758:Ear, Inner / Q000002:abnormalities* / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012189:Retrospective Studies; D013701:Temporal Bone / Q000002:abnormalities / Q000473:pathology; D013997:Time Factors