아가미-귀 증후군 환자에서 발견된 양측 제3형 새열기형 1예
A Case of Bilateral 3rd Branchial Cleft Anomaly Found in Patient with Branchio-Otic Syndrome
1
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
Branchio-otic (BO)-syndrome is a relatively uncommon genetic disease, and is characterized by branchial fistulae, congenital preauricular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. The phenotype varies, so that degree of hearing loss and the type of branchial fistulae vary depending on the patient. Branchial cleft anomaly is common feature of BO syndrome (63%), and most of them are 2nd branchial cleft anomaly. There have been no reports of BO syndrome with 3rd or 4th branchial cleft anomaly published in literature. We report a case of bilateral 3rd branchial cleft anomaly in a 22 year-old male patient with BO syndrome, who treated with chemical and electrocauterization therapy, with a review of literatures.
Abstract
Branchio-otic (BO)-syndrome is a relatively uncommon genetic disease, and is characterized by branchial fistulae, congenital preauricular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. The phenotype varies, so that degree of hearing loss and the type of branchial fistulae vary depending on the patient. Branchial cleft anomaly is common feature of BO syndrome (63%), and most of them are 2nd branchial cleft anomaly. There have been no reports of BO syndrome with 3rd or 4th branchial cleft anomaly published in literature. We report a case of bilateral 3rd branchial cleft anomaly in a 22 year-old male patient with BO syndrome, who treated with chemical and electrocauterization therapy, with a review of literatures.
참고문헌 (18)
- 김학준, "Branchio-Oto-Renal 증후군 1예", 대한이비인후-두경부외과학회지, 54(11), pp.784~787 (2011), 대한이비인후과학회
- 김지원, "아가미-귀-콩팥증후군 환자에서의 신부전 증례", 대한내과학회지, 93(4), pp.398~403 (2018), 대한내과학회
- 심은정, "자발성 종양 용해 증후군과 상대정맥 증후군으로 발현된 T세포 급성 림프구성 백혈병 치료 경험 1례", Clinical and Experimental Pediatrics, 43(7), pp.983~9885 (2000), 대한소아청소년과학회
- Hong JJ, "A case of branchio-otic syndrome", Korean J Head Neck Oncol, 27(1), pp.84~87 (2011)
- 김태용, "새열이 증후군(Branchio-Otic Syndrome) 1예", 대한이비인후-두경부외과학회지, 54(7), pp.493~496 (2011), 대한이비인후과학회
- Chang EH, "Branchio-oto-renal syndrome : the mutation spectrum in EYA1 and its phenotypic consequences", Hum Mutat, 23(6), pp.582~589 (2004)
- Pack SI, "A case of branchial cleft cyst", Korean J Otolaryngol, 24, pp.432~435 (1981)
- Fraser FC, "Frequency of the branchio-oto-renal(BOR)syndrome in children with profound hearing loss", Am J Med Genet, 7(3), pp.341~349 (1980)
- Heusinger C, "Hals-Kiemen-Fisteln von noch nicht beobachteter form", Archiv f pathol Anat, 29(3-4), pp.358~380 (1864)
- Melnick M, "Familial branchio-oto-renal dysplasia : a new addition to the branchial arch syndromes", Clin Genet, 9(1), pp.25~34 (1976)
- Abdelhak S, "Clustering of mutations responsible for branchio-oto-renal(BOR)syndrome in the eyes absent homologous region(eyaHR)of EYA1", Hum Mol Genet, 6(13), pp.2247~2255 (1997)
- Kumar S, "Autosomal-dominant branchio-otic(BO)syndrome is not allelic to the branchio-oto-renal(BOR)gene at 8q13", Am J Med Genet, 76(5), pp.395~401 (1998)
- Ruf RG, "A gene locus for branchio-otic syndrome maps to chromosome 14q21. 3-q24. 3", J Med Genet, 40(7), pp.515~519 (2003)
- Stinckens C, "The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study", Int J Pediatr Otorhinolaryngol, 59(3), pp.163~172 (2001)
- Chandler JR, "Branchial cleft cysts, sinuses, and fistulas", Otolaryngol Clin North Am, 14(1), pp.175~186 (1981)
- Narcy P, "Fistulae of the fourth endobranchial pouch(POR 00547)", Int J Pediatr Otorhinolaryngol, 16(2), pp.157~165 (1988)
- Hwang J, "Excision versus trichloroacetic acid(TCA)chemocauterization for branchial sinus of the pyriform fossa", J Pediatr Surg, 50(11), pp.1949~1953 (2015)
- 이길준, "화학 소작술과 전기 소작술을 동시에 활용한 제 4형 새열낭종의 치료", 대한후두음성언어의학회지, 29(2), pp.94~97 (2018), 대한후두음성언어의학회