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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。方法选取我科2011年2月至2011年8月入院的先天性小耳畸形患者作为研究对象,对所有非综合症型先天性小耳畸形患者进行全面临床查体和相关检查,以及家族耳部先天畸形发病情况的提问调查。详细记录患者及其家族发病情况。对获得的数据资料进行统计学分析,探寻潜在的有价值的规律。结果本研究中,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。先天性小耳畸形患者中家族耳畸形史的发生率达到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%)。附耳/耳前瘘管(10.1%)是最常见的家族耳畸形疾患。家族小耳畸形患者中,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。小耳畸形一级亲属患病率为0.8%。结论本研究中,先天性小耳畸形患者,具有男性高发及右侧好发的特点;附耳/瘘管是很常见的并发畸形,而且合并该类畸形的患者具有很高的家族耳畸形发生率;附耳/瘘管亦为最常见的家族耳畸形病史;小耳畸形患者的一级亲属患病率为0.8%;单纯性小耳畸形发病模式有待进一步研究论证。
Objective To investigate the phenotypic characteristics and family history of patients with congenital malformations and to investigate the genetic characteristics of patients with congenital malformations. Methods The patients with congenital malformations admitted from February 2011 to August 2011 in our department were enrolled in this study. All patients with congenital malformations of non-syndromic congenital malformations underwent comprehensive physical examination and related examinations, as well as family ear congenital malformations Questioning the incidence of the situation. Detailed records of patients and their families incidence. The data obtained statistical analysis, to explore the potential of the law of value. Results In this study, the incidence of congenital malformations in men (77.5%) was significantly higher than that in women (22.5%). Among unilateral patients (98.1%), the incidence of right side disease (64.0%) was significantly higher than that of the left side (34.1%). The mild premalignant anterior deformity (with auricular / auricular fistula, 12.8%) was the most clinically common sign except ear canal stenosis / atresia and ipsilateral facial dysplasia. The incidence of family history of ear malformations in patients with congenital malformations reached 15.9%. The incidence of family ear malformation (27.3%) was significantly higher in patients with small ear malformations who had auricle / fistula (13.9%). Ear / Ear fistula (10.1%) is the most common familial ear malformation. Family clavicle patients, involving first-degree relatives and third-degree relatives in each of 6 cases (2.3%), but not involved in second-degree relatives. The prevalence of first-degree relatives of microtia was 0.8%. Conclusions In this study, patients with congenital malformations had the characteristics of high prevalence in men and right-sided malformations. The appendage / fistula was a common complication of deformity, and the incidence of familial malformation was high in patients with such deformities / Fistula is also the most common family history of ear malformations; the prevalence of first-degree relatives in patients with small ear malformations is 0.8%; the incidence of simple small ear malformations needs further study and demonstration.