Stickler syndrome type I and Stapes ankylosis.
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.
Baijens
Laura W J
LW
Department of Otorhinolaryngology Head and Neck Surgery, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
De Leenheer
Els M R
EM
Weekamp
Henriëtte H
HH
Cruysberg
Johannes R M
JR
Mortier
Geert R
GR
Cremers
Cor W R J
CW
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
C499177:COL2A1 protein, human; D024043:Collagen Type II