摘要
目的探讨一个X连锁隐性综合征型耳聋家系的表型特征。方法对所有家系成员进行详细的病史询问、体格检查和纯音听力测试,另对其中4例患者进行进一步的颞骨高分辨率CT检查、发育和智力评估以及实验室检查等。结果家系共5代60例,6例患者均为男性,其遗传基因来自他们表型正常的母亲。接受进一步评估的4例患者均为出生后即有听力下降,纯音测听提示为双耳轻~重度混合性或传导性听力损失,其中3例听力损失随年龄进行性加重。耳科检查发现,4例6耳外耳道闭锁,2耳耳道重度狭窄;3例存在不同程度的耳郭畸形,包括招风耳、后旋小耳、对耳轮和对耳屏发育不全等。颞骨影像学检查提示3例混合性听力损失者具有相似的内耳发育畸形:内听道异常扩大;2例可疑听骨链异常。此外,4例均有不同程度的面部形态异常,包括双侧上睑下垂(3例)、眉毛浓密(3例)、眼距增宽(4例)、宽鼻根(3例)、小眼(1例)和面部不对称(1例)。4例患者的发育和智力评估、视力、眼底检查以及实验室检查等均未见异常。结论系谱分析及临床评估表明该家系表型为一种新的X连锁耳聋综合征,其主要临床特征为耳发育畸形、先天性混合性或传导性听力损失以及面部形态异常。
Objective This study aimed to explore the clinical features of a Chinese family with X-linked recessive syndromic hearing loss.Methods We obtained a detailed history and performed physical examinations and pure-tone audiometry in all family members.Further clinical investigations,including intelligence and development evaluations,high-resolution computed tomography(CT)of the temporal bone,and laboratory tests,were performed in four patients.Results The pedigree of the family includes 60 members in five generations.Six cases pertained male patients and related through their unaffected mothers.The hearing loss started progressively from birth in three patients and was non-progressive in one patient.Pure-tone audiometry revealed bilateral,mild-to-severe,mixed or conductive hearing loss in these patients.Otological examination in these four patients revealed aural atresia in six ears and very narrow auditory canals in the remaining two ears.In addition,three patients had an abnormal auricular shape(bat ear,posteriorly rotated small ear,incomplete antihelix,and antitragus formation).CT of the temporal bone revealed a similar inner ear malformation—an abnormally dilated internal auditory canal-in three patients with mixed hearing loss.Abnormal ossicular development was suspected in two patients.Three patients presented with bilateral ptosis,which seemed the most outstanding facial dysmorphic feature.Other features included heavy eyebrows(3 cases),a slightly wide eye span(4 cases),a broad nasal root(3 cases),microphthalmia(1 case),and asymmetric face(1 case).No patient presented with developmental delay and decreased cognitive functioning or intellectual disability.Visual activity test,fundus examination,and laboratory tests revealed normal findings.Conclusion Pedigree analysis and clinical findings indicate a novel X-linked deafness syndrome in this family.The main features include ear anomalies,congenital mixed or conductive hearing loss,and facial dysmorphism.
作者
兰世鹏
陈智斌
曹新
邢光前
LAN Shipeng;CHEN Zhibin;CAO Xin;XING Guangqian(Department of Otorhinolaryngology,the First Affiliated Hospital of Nanjing Medical University/Jiangsu Provincial People̓s Hos-pital,Nanjing 210029,Jiangsu,China;Department of Medical Genetics,School of Basic Medical Science,Nanjing Medical University,Nanjing 211166,Jiangsu,China)
出处
《山东大学耳鼻喉眼学报》
CAS
2021年第3期65-69,共5页
Journal of Otolaryngology and Ophthalmology of Shandong University
