title: Stickler syndrome type I and Stapes ankylosis.
abstract: OBJECTIVE
  To report a successful stapedectomy for stapedial fixation in a patient with Stickler syndrome type I (COL2A1).
  
  
  METHODS
  University Hospital Department for Otology, Pathology, Ophthalmology and Clinical Genetics.
  
  
  METHODS
  A clinical and genetic evaluation of a mother and daughter focusing mainly on the otological, ophthalmological, histological and genetical aspects.
  
  
  METHODS
  A stapedectomy was performed successfully.
  
  
  RESULTS
  Hearing impairment improved after stapedectomy. Postoperatively a shift in high-frequency threshold wa seen related to the stapedectomy. A new mutation in COL2A1 gene was dectected.
  
  
  CONCLUSIONS
  Stapedial fixation can be the cause of hearing impairment in Stickler syndrome type I (COL2A1). The hearing impairment can be improved by stapes surgery.
authors.affiliation: Department of Otorhinolaryngology Head and Neck Surgery, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
authors.forename: Laura W J
authors.initials: LW
authors.lastname: Baijens
authors.forename: Els M R
authors.initials: EM
authors.lastname: De Leenheer
authors.forename: Henriëtte H
authors.initials: HH
authors.lastname: Weekamp
authors.forename: Johannes R M
authors.initials: JR
authors.lastname: Cruysberg
authors.forename: Geert R
authors.initials: GR
authors.lastname: Mortier
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D000293:Adolescent; D000328:Adult; D024043:Collagen Type II / Q000235:genetics; D003240:Connective Tissue Diseases / Q000473:pathology; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D009154:Mutation; D009216:Myopia / Q000473:pathology; D013199:Stapes / Q000002:abnormalities*; D013201:Stapes Surgery; D013577:Syndrome
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II