Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review. Issue 7 (July 2020)

• Record Type: Journal Article
• Authors: Li, Hong-Xia; Zhou, Peng; Tong, Min; Zheng, Yan
• Is Part Of: Journal of international medical research. Volume 48:Issue 7(2020)
• Publication Date: 2020-07
• Subjects: Branchial cleft abnormality -- branchio-oto-renal syndrome -- hearing loss -- case report -- fistulectomy -- tympanoplasty -- congenital neck malformation -- pediatric; Medicine -- Periodicals; Pharmacology -- Periodicals; 610.5
• DOI: 10.1177/0300060520926363
• Languages: English
• ISSNs: 0300-0605

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.