Inheritance of branchial sinuses and preauricular fistulae


  • Alasdair G. W. Hunter

    1. Department of Medical Genetics, The Montreal Children's Hospital and Department of Biology, McGill University, Montreal, Canada
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  • Publication 417 from the McGill University-Montreal Children's Hospital Research Institute. Supported by a Medical Research Council Genetics Group grant.


On the basis of two families in which branchial sinus and pre-auricular fistulas occurred together, and a review of the literature, it is proposed that the two conditions can result from an autosomal dominant gene with some-what reduced penetrance and variable expressivity. Embryo logical considerations suggest that the mutant gene may interfere with proper obliteration of the pharyngeal clefts, whichmay lead to either or both of the two lesions. Conductive deafness may also occur as part of the syndrome.