OBJECTIVE: To report a successful stapedectomy for stapedial fixation in a patient with Stickler syndrome type I (COL2A1). SETTING: University Hospital Department for Otology, Pathology, Ophthalmology and Clinical Genetics. STUDY DESIGN: A clinical and genetic evaluation of a mother and daughter focusing mainly on the otological, ophthalmological, histological and genetical aspects. INTERVENTION: 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. CONCLUSION: Stapedial fixation can be the cause of hearing impairment in Stickler syndrome type I (COL2A1). The hearing impairment can be improved by stapes surgery.
OBJECTIVE: To report a successful stapedectomy for stapedial fixation in a patient with Stickler syndrome type I (COL2A1). SETTING: University Hospital Department for Otology, Pathology, Ophthalmology and Clinical Genetics. STUDY DESIGN: A clinical and genetic evaluation of a mother and daughter focusing mainly on the otological, ophthalmological, histological and genetical aspects. INTERVENTION: 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. CONCLUSION: 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: M P Snead; A M McNinch; A V Poulson; P Bearcroft; B Silverman; P Gomersall; V Parfect; A J Richards Journal: Eye (Lond) Date: 2011-09-16 Impact factor: 3.775
Authors: Frederic R Acke; Freya K Swinnen; Fransiska Malfait; Ingeborg J Dhooge; Els M R De Leenheer Journal: Eur Arch Otorhinolaryngol Date: 2016-01-19 Impact factor: 2.503
Authors: Frederic R E Acke; Ingeborg J M Dhooge; Fransiska Malfait; Els M R De Leenheer Journal: Orphanet J Rare Dis Date: 2012-10-30 Impact factor: 4.123