先天性双侧耳甲腔型小耳畸形一家系报告

Bilateral congenital microtia of concha type——A Pedigree Report

研究背景:先天性小耳畸形是一种较为常见的头面部畸形,发病率约为0.4～5.5/10000,畸形多以散发病例出现,家族性病例较少,一般认为是环境因素和遗传因素的共同作用导致该畸形的出现。本研究对1例先天性双侧耳甲腔型小耳畸形家系进行调查,分析其临床表现及可能存在的遗传学特征。研究对象与方法:临床接诊1例先天性双侧耳甲腔型小耳畸形患者,流行病学调查及家系内随访,并进行了临床表型和遗传学的初步分析。结果:该患者家系内共有成员56人,无近亲婚配情况,共有5代发病,累及患者20名,均为先天性双侧耳甲腔型小耳畸形患者,未伴有Treacher-Collins综合征及Millers综合征的相关表现,未发现心血管系统,泌尿系统以及四肢等发育畸形。该家系内的发病率达35.7%,远高于中国人群的发病率5.18/10000。结论:通过对该家系的分析,初步判断在该家系中存在的先天性双侧耳甲腔型小耳畸形的遗传方式可能为常染色体显性遗传,并且提示了先天性小耳畸形发病的遗传相关性。

Background To observe the clinical symptoms and analyze the hereditary features of a pedigree with bilateral congenital microtia of concha type. Object of Study and Methods We obtained a Chinese pedigree with bilateral congenital microtia of concha type in 56 members of 5 generations family, we analyzed their clinical and hereditary features, epidemiology database and blood sample were collected for further study as well. Results There were 20 patients with bilateral congenital microtia of concha type in this pedigree which family members sum to 56, and now 15 patients are still available. The malformation which was found in this pedigree seemed to be an autosomal dominant disorder, and consanguineous marriage was not found in this family. The signs of Treacher-Colins syndrome and Millers syndrome, the malformations of cardiovascular system,urinary system and extremities were not found in this family,and the incidence rate was 35.7% outclass the rate in Chinese Population. Conclusions Regarding as the pedigree, we considered that the bilateral congenital microtia of concha type in this family suggested the possibility of autosomal dominant model of inheritance, and there showed relationship between microtia and genes as well.