Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review

The Journal of International Medical Research
Hong-Xia LiYan Zheng

Abstract

Branchial cleft abnormality is a common congenital neck malformation in children, which is caused by the abnormal development of the gill sac or gill groove. It is mainly manifested as a cyst in the sinus tract and fistula in the neck, as well as branchio-oto-renal syndrome (BORS). As a rare autosomal dominant genetic disease, the typical manifestations of BORS are hearing loss, abnormal branchial cleft development and renal dysplasia. In this paper, a patient was admitted to the hospital for bilateral branchial cleft fistulas combined with bilateral anterior auricular fistulas, auricular appendix, auricle dysplasia, external auditory canal stenosis, and hearing loss. The patient was diagnosed with BORS, and underwent fistulectomy of the neck and anterior ear, external auditory canal formation, and tympanoplasty. The aim of this report is to strengthen clinicians' understanding of BORS and reduce the rate of clinical missed diagnosis through our case report and literature review.

References

Jan 1, 1978·American Journal of Medical Genetics·F C FraserB Nogrady
Jan 1, 1979·American Journal of Otolaryngology·R A JahrsdoerferJ B Sydnor
Jan 1, 1980·American Journal of Medical Genetics·F C FraserF Halal
Feb 25, 2005·International Journal of Audiology·Mathyus H KempermanCor W R J Cremers
Nov 30, 2012·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Emad A Magdy, Yasmine A Ashram
Apr 16, 2014·Pediatrics International : Official Journal of the Japan Pediatric Society·Naoya MorisadaKazumoto Iijima
Apr 29, 2015·Singapore Medical Journal·Neville Wei Yang TeoKun Kiaang Henry Tan
Mar 4, 2018·Journal of Human Genetics·Ai UnzakiKazumoto Iijima
Mar 6, 2019·Ear, Nose, & Throat Journal·Mainak Dutta, Indranil Chatterjee
Aug 7, 2019·Acta Radiologica Open·Lelia E WilliamsCory M Pfeifer

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Methods Mentioned

BETA
cochlear implant

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