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Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome
- Source :
- Genetic counseling (Geneva, Switzerland). 11(3)
- Publication Year :
- 2000
-
Abstract
- Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial Syndrome: We describe a 3-year-old girl with bilateral severe conductive hearing loss and multiple bilateral supra- and preauricular defects with unusual overlying thin skin. The severe conductive hearing loss is due to abnormal configuration of the ossicular chain. Multiple pre- and supra-auricular skin defects have been described in the Branchio-Oculo-Facial syndrome, and we propose that the findings in our present patient may be a variant manifestation of this syndrome.
Details
- ISSN :
- 10158146
- Volume :
- 11
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Genetic counseling (Geneva, Switzerland)
- Accession number :
- edsair.pmid..........abff947a74cbbfafcfdb9f0d2bab746c