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兄弟姐妹中的单侧后鼻孔闭锁——一种罕见的情况。

Unilateral choanal atresia in siblings--a rare occurrence.

作者信息

Bhattacharyya A K, Lund V J

机构信息

Department of Rhinology, Royal National Throat, Nose and Ear Hospital, London, UK.

出版信息

J Laryngol Otol. 1996 Jul;110(7):665-7. doi: 10.1017/s0022215100134553.

DOI:10.1017/s0022215100134553
PMID:8759542
Abstract

The genetic aspects of choanal atresia have not been clearly defined though it is probably a multifactorial trait as in cleft lip and cleft palate. The appearance of the condition in both single and successive generations supports this contention. Choanal atresia can occur as an isolated anomaly, but is more commonly associated with one or more concomitant congenital anomalies. In this report two sisters both in their teens presented with unilateral choanal atresia as an isolated anomaly. Endoscopic trans-nasal repair of choanal atresia was performed in both of them as this offers excellent visualisation and access.

摘要

后鼻孔闭锁的遗传学因素尚未明确界定,不过它可能像唇腭裂一样是一种多因素性状。该病症在单代和连续几代人中出现均支持这一观点。后鼻孔闭锁可作为一种孤立的异常情况出现,但更常见的是与一种或多种并发的先天性异常相关。在本报告中,两名十几岁的姐妹均表现为单侧后鼻孔闭锁这一孤立异常。两人均接受了后鼻孔闭锁的鼻内镜经鼻修复术,因为该手术能提供极佳的视野和操作通道。

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Unilateral choanal atresia in siblings--a rare occurrence.兄弟姐妹中的单侧后鼻孔闭锁——一种罕见的情况。
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2
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Congenital choanal atresia in siblings.兄弟姐妹中的先天性后鼻孔闭锁
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Congenital choanal atresia: computed tomographic and clinical findings.先天性后鼻孔闭锁:计算机断层扫描及临床 findings。(注:这里“findings”直译为“发现”,结合语境可灵活处理为“表现”等更合适的词,但按照要求不能添加解释,所以保留原文英文词汇)
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引用本文的文献

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A national study of choanal atresia in tertiary care centers in Canada - part I: clinical presentation.加拿大三级保健中心的先天性后鼻孔闭锁的全国性研究 - 第一部分:临床表现。
J Otolaryngol Head Neck Surg. 2021 Jul 12;50(1):45. doi: 10.1186/s40463-021-00517-x.
2
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.后鼻孔闭锁的描述性及危险因素分析:1997 - 2007年全国出生缺陷预防研究
Eur J Med Genet. 2014 Apr;57(5):220-9. doi: 10.1016/j.ejmg.2014.02.010. Epub 2014 Feb 24.
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Bilateral congenital choanal atresia presenting at age twenty two years: an unusual case report.
22岁出现的双侧先天性后鼻孔闭锁:一例罕见病例报告。
Indian J Otolaryngol Head Neck Surg. 1999 Jan;51(1):59-61. doi: 10.1007/BF02996849.