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  • Title: Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome.
    Author: Vantrappen G, Feenstra L, Fryns JP.
    Journal: Genet Couns; 2000; 11(3):273-6. PubMed ID: 11043436.
    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.
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