先天性小耳畸形遗传特征临床调查初步研究

发布时间：2018-05-21 10:13

本文选题：先天性小耳畸形 + 表型特征　；参考：《北京协和医学院》2013年硕士论文

【摘要】：目的对先天性小耳畸形患者的表型特点及家族史进行临床调查,初步研究先天性小耳畸形患者的遗传特征。方法 1.选取连续时间段内入院的先天性小耳畸形患者作为研究对象,对其进行全面详细的临床查体和相关实验室及影像学检查。记录每一名患者的小耳畸形及合并存在的其他先天性畸形的详细情况。 2.选取所有非综合症型先天性小耳畸形患者,对其家族耳部先天畸形的发病情况进行提问调查,记录患者详细家族资料。 3.对获得的调查资料进行分类统计和分析,探寻潜在的有价值的规律。结果 1.表型特点：本研究中,先天性小耳畸形男性发病的比例(77.5%)明显高于女性(22.5%)。在单侧发病患者中(98.1%),右侧发病的几率(64.0%)明显高于左侧(34.1%)。而耳前轻度畸形(附耳/耳前瘘管,12.8%),则是除外耳道狭窄/闭锁和患侧面部发育不良之外临床上最常见的合并体征。 2.家族耳部畸形：本研究中,先天性小耳畸形患者中存在家族耳畸形史的比例达到15.9%。合并附耳/瘘管的小耳畸形患者,其家族耳畸形发生率(27.3%)明显高于单独小耳畸形患者(13.9%)。相对于小耳畸形(4.6%)和其他耳廓畸形(1.2%),附耳/耳前瘘管(10.1%)是最常见的家族疾患。在有家族小耳畸形病史的患者中,累及到一级亲属和三级亲属的各有6例(占2.3%),而未见累及二级亲属。6例表现为先天性小耳畸形的一级亲属中,男性和女性各占3例(各占50%),父/母亲2例(占33.3%),同胞4例(占66.7%)。结论本研究中,先天性小耳畸形患者具有明显的男性好发和右侧受累倾向。附耳/耳前瘘管不仅是很常见的小耳畸形合并症,而且合并附耳/耳前瘘管的患者,其家族耳畸形发生率明显高于单独小耳畸形患者。在家族先天性耳部畸形发病史中,附耳/耳前瘘管亦是最常见的情况。一级亲属的小耳畸形患病率为0.8%。单纯性小耳畸形发病模式尚有待进一步研究。
[Abstract]:Purpose The phenotypic characteristics and family history of patients with congenital microauricular malformation were investigated and the genetic characteristics of patients with congenital microauricular malformation were preliminarily studied. Method 1. The patients with congenital microauricular malformation who were admitted to hospital in a continuous period of time were selected as the research objects and their clinical examination and related laboratory and imaging examinations were carried out in detail. Record details of each patient's microauricular malformation and other concomitant congenital deformities. 2. All the patients with non-syndromic congenital microauricular malformation were selected to investigate the incidence of congenital deformity of the ear in their family and record the data of the patient's family. 3. The investigation data are classified and analyzed to explore the potential valuable rules. Result 1. Phenotypic characteristics: in this study, the incidence rate of congenital microauricular malformation in males was significantly higher than that in females (77.5%). In the patients with unilateral disease, the incidence of the disease in the right side was significantly higher than that in the left side (98.1%), and the incidence rate in the right side was significantly higher than that in the left side (34.1%). The mild preauricular malformation (accessory ear / preauricular fistula 12.8) is the most common clinical sign in addition to stenosis / atresia of the external auditory canal and dysplasia of the affected side. 2. Familial ear malformation: in this study, the incidence of familial auricular deformities in patients with congenital microauricles was 15.9%. The incidence of familial ear malformation in patients with auricular appendage / fistula was significantly higher than that in patients with single auricular malformation (13.9g / L). Compared with microauricular malformation (4.6T) and other auricle deformities (1.2T), appendage / preauricular fistula (10.1) is the most common family disease. Among the patients with a family history of microauricular malformation, 6 cases (2.3%) were involved in the first degree relatives and the third grade relatives respectively, while 6 cases of the second degree relatives did not show congenital microauricular malformation. There were 3 cases of male and 3 cases of female (50% respectively), 2 cases of father / mother (33.3%) and 4 cases of sibling (66.7%). Conclusion In this study, patients with congenital microauricular malformation had significant male predilection and right-sided involvement. Auricular / preauricular fistula is not only a very common complication of microauricular malformation, but also the incidence of familial ear malformation in patients with accessory / preauricular fistula is significantly higher than that in patients with single microauricular malformation. Auricular / preauricular fistula is also the most common condition in the family history of congenital ear malformation. The prevalence of minor ear malformation in first degree relatives was 0.8%. The pathogenesis of simple microauricular malformation remains to be further studied.
【学位授予单位】：北京协和医学院
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R764.7

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