先天性小耳畸形遗传特征临床调查初步研究

The preliminary study for the genetic characteristics of the congenital microtia patients

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 survey the phenotype feature of the congenital microtia patients and their family history, and preliminarily study the genetic characteristcs of the congenital microtia patients. Method： The congenital microtia inpatients from February to August in year 2011 were selected as the objects. Overall clinical and relevant examination were taken and questionnaire survey were used in each non - syndromic microtia patients. The detailed information of both patients and their relatives were recorded. Classified statistic and analysis were carried on both the clinical and familial data to study the potential value. Result： In the study, there is obvious sex diversity （male 77. 5%, female 22. 5% ） in the morbidity. In the unilateral patients （98. 1% ）, the right side （64.0%） is more frequently affected. Preanricular tags/pits （ 12. 8% ） is the most common physical sign except for auditory meatus deformity and hemefacial microsomia. The proportion of the patients who have auricle deformity familial history is 15. 9% . With or without the complications of preauricular tags/pits, there is obvious difference in the occurrence of the familial history （27. 3%, 13.9% ）. Compared with the microtia （4. 6% ） and other deformity （ 1.2% ）, preauricular tags / pits （ 10. 1% ） is more often observed. The familial cluster of microtia is observed in six first degree relatives and six third degree relatives （2. 3% ）, but there is no second degree relatives. Among the six first degree relatives, males and females each have three patients （50%）, including two parents （33.3%） and four siblings （66.7%）. Conclusion： In the study, there is sex （male） and affected side （right） predilection in congenital microtia patients. Preaurieular tags/pits is nearly the most common physical sign not only in the patients, but also their relatives. With or without the complications of preauricular tags/pits, there is obvious difference in the occurrence of the familial history. The familial morbidity of the microtia in the first degree relatives is 0.8%. The disease model of the non - syndromic microtia needs further study.