ITEM METADATA RECORD
Title: Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome
Authors: Vantrappen, Greta ×
Feenstra, L
Fryns, Jean-Pierre #
Issue Date: 2000
Series Title: Genetic Counseling vol:11 issue:3 pages:273-6
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.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics
Research Group Experimental Oto-rhino-laryngology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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