Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111613. doi: 10.1016/j.ijporl.2023.111613. Epub 2023 Jun 7.
Microtia is a congenital anomaly of the outer ear. Although genetic and environmental factors could play a role, no consensus has been established on the pathogenesis and cause of this condition. In this study, we surveyed the frequency and pattern of family history in patients with microtia in a Chinese specialty clinic population.
We evaluated data from 672 patients (mean age = 9.2, male-to-female ratio = 2.6:1) with microtia admitted to the Department of Auricular Reconstruction at the Plastic Surgery Hospital of Peking Union Medical College from December 2014 to February 2016. Family history of congenital ear anomalies across three generations was recorded. Pearson chi-square test or Fisher exact test was used to test the associations between the characteristics of microtia and hereditary features.
A family history of auricle anomalies was identified in 202 patients (30.1%), of whom, 95 families showed vertical transmission, 14 families skipped a generation, and 120 families showed family aggregations. The incidence of family history varied with grades of microtia (P = 0.001). Patients with preauricular tags or pits (38.3%) had a higher familial incidence of microtia than those with simple microtia (24.1%) (P < 0.001).
Patients with a lower grade of microtia demonstrated a higher incidence of family history. Patients with microtia had significantly more relatives with preauricular tags or pits. Microtia and preauricular tags or pits are different manifestations of the same defect, and their significant concurrency among relatives suggests that a considerable proportion of microtia is inherited and could recur with varying degrees of severity in other family members.
小耳畸形是一种外耳先天性畸形。虽然遗传和环境因素可能起作用，但尚未就其发病机制和病因达成共识。本研究旨在调查中国某专科诊所就诊的小耳畸形患者的家族史发病频率和模式。
我们评估了 2014 年 12 月至 2016 年 2 月期间，北京协和医学院整形外科医院耳再造科收治的 672 例（平均年龄为 9.2 岁，男女比例为 2.6:1）小耳畸形患者的数据。记录了三代人先天性耳部畸形的家族史。采用 Pearson χ2 检验或 Fisher 确切概率法检验小耳畸形特征与遗传特征之间的关联。
202 例（30.1%）患者有耳畸形家族史，其中 95 个家系垂直传递，14 个家系隔代遗传，120 个家系表现为家族聚集。家族史的发生率随小耳畸形程度的增加而变化（P=0.001）。有副耳或耳前瘘管（38.3%）的患者比单纯小耳畸形（24.1%）的患者家族史发病率更高（P<0.001）。
小耳畸形程度较低的患者家族史发生率较高。小耳畸形患者的亲属中，副耳或耳前瘘管的发生率显著更高。小耳畸形和副耳或耳前瘘管是同一缺陷的不同表现，其在亲属中的显著并存提示相当一部分小耳畸形是遗传的，在其他家庭成员中可能以不同程度的严重程度复发。
