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).

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: Laura W J Baijens, Els M R De Leenheer, Henriëtte H Weekamp, Johannes R M Cruysberg, Geert R Mortier, Cor W R J Cremers
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 68 Issue 12 Pg. 1573-80 (Dec 2004) ISSN: 0165-5876 [Print] Ireland
• PMID: 15533574 (Publication Type: Case Reports, Journal Article)

Chemical References

• COL2A1 protein, human
• Collagen Type II

Topics

• Abnormalities, Multiple (genetics, pathology, surgery)
• Adolescent
• Adult
• Collagen Type II (genetics)
• Connective Tissue Diseases (pathology)
• Family Health
• Female
• Hearing Loss, Sensorineural (pathology)
• Humans
• Mutation
• Myopia (pathology)
• Stapes (abnormalities)
• Stapes Surgery
• Syndrome