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后鼻孔闭锁及其相关异常。对CHARGE综合征的进一步支持。

Choanal atresia and its associated anomalies. Further support for the CHARGE Association.

作者信息

Kaplan L C

出版信息

Int J Pediatr Otorhinolaryngol. 1985 Mar;8(3):237-42. doi: 10.1016/s0165-5876(85)80084-7.

Abstract

The finding of choanal atresia warrants careful and prompt consideration of other severe congenital anomalies in the newborn. In a chart review of 41 patients with the diagnosis of choanal atresia, 17 patients (41%) had choanal atresia alone while 24 (59%) had at least one other anomaly. Twenty-four (59%) of all patients had bilateral choanal atresia, and 75% of the patients with at least one other anomaly had bilateral choanal atresia. The following features were found to be associated with bilateral choanal atresia: significant structural heart disease (21%), postnatal growth retardation (36%), psychomotor retardation (19%), sensorineural deafness (21%), velopharyngeal discoordination (15%), micrognathia (12%), blocked tear duct (10%), high-arched palate (15%), and facial asymmetry (7%). Twenty-one other anomalies were described. Coloboma was encountered in 10% of our patients and only 3 patients had all of the features originally described in the CHARGE Association. The non-random association of multiple anomalies suggested by the eponym, CHARGE is discussed, and further data is offered for evaluating the child who presents with choanal atresia.

摘要

发现后鼻孔闭锁需要对新生儿的其他严重先天性异常进行仔细且及时的评估。在一项对41例诊断为后鼻孔闭锁患者的病历回顾中,17例患者(41%)仅患有后鼻孔闭锁,而24例(59%)至少还有一种其他异常。所有患者中有24例(59%)为双侧后鼻孔闭锁,在至少有一种其他异常的患者中,75%为双侧后鼻孔闭锁。发现以下特征与双侧后鼻孔闭锁相关:严重结构性心脏病(21%)、出生后生长发育迟缓(36%)、精神运动发育迟缓(19%)、感音神经性耳聋(21%)、腭咽失调(15%)、小颌畸形(12%)、泪道阻塞(10%)、高拱腭(15%)和面部不对称(7%)。还描述了另外21种异常。我们的患者中有10%出现了脉络膜缺损,只有3例患者具有最初在CHARGE综合征中描述的所有特征。文中讨论了由首字母缩写词CHARGE所提示的多种异常的非随机关联,并提供了更多数据用于评估患有后鼻孔闭锁的儿童。

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