小耳畸形及其伴发畸形的临床流行病学研究  

A Clinical Study of Congenital Microtia and Associated Malformations

作　　者：郭蕊 王冰清 刘暾 陈琪 钱瑾 王悦 张永彪 王培洲 李涵博 梁嘉芯 章庆国 GUO Rui;WANG Bingqing;LIU Tun;CHEN Qi;QIAN Jin;WANG Yue;ZHANG Yongbiao;WANG Peizhou;LI Hanbo;LIANG Jiaxin;ZHANG Qingguo(Department of Ear Reconstruction,Plastic Surgery Hospital,Chinese Academy of Medical Sciences/Peking Union Medical College,Beijing 100144,China)

机构地区：[1]中国医学科学院北京协和医学院整形外科医院外耳再造中心,北京100144

出　　处：《中华耳科学杂志》2022年第3期409-416,共8页Chinese Journal of Otology

基　　金：国家自然科学基金(81571924,81701930);中国医学科学院整形外科医院院所基金项目资助(YS202028,YS202041)。

摘　　要：目的探讨先天性小耳畸形及其伴发畸形的临床特征。方法收集2015年1月至2020年1月就诊于中国医学科学院整形外科医院的先天性小耳畸形患者,通过临床查体、胸部CT和超声等结果进行诊断,记录其不同分型和伴发畸形情况,进行临床流行病学分析。结果共纳入3463例先天性小耳畸形患者,其中男性2659例(76.8%)>女性804例(23.2%);右侧1951例(56.3%)>左侧1217例(35.1%)>双侧295例(8.5%);小耳畸形3度2677例(77.3%)>2度627例(18.1%)>1度94例(2.7%)>4度65例(1.9%)。家族性病例40例(1.2%),其余3423例(98.8%)为散发病例。不同分型小耳畸形在患病侧别(χ^(2)=91.908,P<0.001)和散发病例(χ^(2)=8.293,P=0.040)上差异有统计学意义。伴发畸形方面,3463例中2038例(58.6%)合并一种或多种伴发畸形。其中最常见的为颅面部畸形(51.5%),其次为肌肉骨骼系统(11.0%)和心血管系统畸形(4.8%)。小耳是否伴随其他畸形在患病侧别(χ^(2)=15,413,P<0.001)和不同分型(χ^(2)=44.189,P<0.001)上差异有统计学意义。结论先天性小耳畸形患者伴发畸形比例较高,且具有明显的临床异质性。临床诊疗中,医师需进行全面系统的检查,以提供个体化治疗。Objective To report clinical features of congenital microtia and associated malformations.Methods From January 2014 to January 2020,a total of 3,463 patients with congenital microtia admitted to the Plastic Surgery Hospital.They were grouped according to physical examination,chest CT and ultrasound.Coexisting anomalies in addition to microtia were analyzed.Results Of these patients,2,659(76.8%)were male and 804(23.2%)were females.The right ear was involved in 1,951 cases(56.3%),left ear in 1,217 cases(35.1%)and both ears in 295 cases(8.5%).Microtia was Grade 3 in 2,677 cases(77.3%),Grade 2 in 627 cases(18.1%),Grade 1 in 94 cases(2.7%)and Grade 4 in 65 cases(1.9%).Family history was positive in 40 cases(1.2%).Distribution of grades of microtia showed significant differences based on laterality(χ^(2)=15.413,P<0.001)and family history(χ^(2)=44.189,P<0.001).At least one associated malformations was seen in 2,038 cases(58.6%),with craniofacial anomalies being the most common(51.5%),followed by musculoskeletal system(11.0%)and cardiovascular system(4.8%)anomalies.Presence of co-existing anomalies was associated with laterality(χ^(2)=91.908,P<0.001)and grade(χ^(2)=8.293,P=0.040)of microtia in non-isolated cases.Conclusion The rate of associated malformations is relatively high in congenital microtia with obvious clinical heterogeneity.A comprehensive and systematic examination is required to provide individualized treatment and genetic counseling.

关 键 词：先天性小耳畸形 伴发畸形 临床流行病学 

分 类 号：R764[医药卫生—耳鼻咽喉科]