이개 기형과 제2형 새열 기형을 동반한 새열이 증후군 1예
A Case of Auricle Deformity With 2nd Branchial Cleft Anomaly in Patient With Branchio-Otic Syndrome
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초록
Branchio-oto-renal (BOR) Syndrome is a rare autosomal dominant genetic disorder character-ized by features such as branchial arch anomalies, hearing loss, preauricular fistula, auricularmalformations, and renal abnormalities. Also, BOR syndrome without renal anomalies is re-ferred to as branchio-otic syndrome. In this report, we present a case of a 50-year-old femalepatient with bilateral type 2 branchial arch anomalies, both preauricular fistula, bilateral innerear malformations, bilateral sensorineural hearing loss, and right auricular malformation. Thepatient underwent surgical treatment. This report is the first documentation in Korea of auric-ular malformation in BOR syndrome, where the patient’s family exhibited a typical autosomaldominant inheritance pattern.
Abstract
Branchio-oto-renal (BOR) Syndrome is a rare autosomal dominant genetic disorder character-ized by features such as branchial arch anomalies, hearing loss, preauricular fistula, auricularmalformations, and renal abnormalities. Also, BOR syndrome without renal anomalies is re-ferred to as branchio-otic syndrome. In this report, we present a case of a 50-year-old femalepatient with bilateral type 2 branchial arch anomalies, both preauricular fistula, bilateral innerear malformations, bilateral sensorineural hearing loss, and right auricular malformation. Thepatient underwent surgical treatment. This report is the first documentation in Korea of auric-ular malformation in BOR syndrome, where the patient’s family exhibited a typical autosomaldominant inheritance pattern.
참고문헌 (15)
- Fraser FC, "Frequency of the branchio-otorenal(BOR)syndrome in children with profound hearing loss", Am J Med Genet, 7(3), pp.341~349 (1980)
- Morisada N, "Branchio-oto-renal syndrome : comprehensive review based on nationwide surveillance in Japan", Pediatr Int, 56(3), pp.309~314 (2014)
- Vincent C, "BOR and BO syndromes are allelic defects of EYA1", Eur J Hum Genet, 5(4), pp.242~246 (1997)
- Krug P, "Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations", Hum Mutat, 32(2), pp.183~190 (2011)
- Propst EJ, "Temporal bone findings on computed tomography imaging in branchio-otorenal syndrome", Laryngoscope, 115(10), pp.1855~1862 (2005)
- Kemperman MH, "Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome", Otol Neurotol, 22(5), pp.637~643 (2001)
- Tanzer RC, "The constricted(cup and lop)ear", Plast Reconstr Surg, 55(4), pp.406~415 (1975)
- Cho YS, "Surgery for minor auricle deformity", J Clin Otolaryngol Head Neck Surg, 23(2), pp.171~184 (2012)
- Chang EH, "Branchio-oto-renal syndrome : the mutation spectrum in EYA1 and its phenotypic consequences", Hum Mutat, 23(6), pp.582~589 (2004)
- Kim SK, "A case of branchio-oto-renal syndrome", J Korean Pediatr Soc, 43(7), pp.983~987 (2000)
- Kim HJ, "A case of branchio-oto-renal syndrome", Korean J Otorhinolaryngol-Head Neck Surg, 54(11), pp.784~787 (2011)
- Hong JJ, "A case of branchio-otic syndrome", Korean J Head Neck Oncol, 27(1), pp.84~87 (2011)
- Kim TY, "A case of branchio-otic syndrome", Korean J Otorhinolaryngol-Head Neck Surg, 54(7), pp.493~496 (2011)
- Kim JW, "Renal failure with branchio-oto-renal syndrome", Korean J Med, 93(4), pp.398~403 (2018)
- Yun YB, "A case of bilateral 3rd branchial cleft anomaly found in patient with branchio-otic syndrome", J Clin Otolaryngol Head Neck Surg, 33(3), pp.159~164 (2022)