Preliminary Investigation Of Etiology And Family Pedigree Analysis Of Weerda ? Congenital Auricle Malformation

Objective To investigate the epidemiology of patients with Weerda ? congenital auricle malformation,analyze its influence factors and family heredity laws and explore the cause of the disease,then the results can provide a clinical base for preventing the occurrence of this disease.Methods 1.Select patients who met diagnosis of the the Weerda ? congenital auricle malformation in the Department of Otorhinolaryngology Head and Neck Surgery of the General Hospital of Ningxia Medical University and the first hospital of Yinchuan from August 2018 to November 2019,We made a questionnaire,conduct a face-to-face survey,and recorded the auricle deformities and other ear signs for each patient,supplemented by telephone and internet surveys.The influence factors involved in the questionnaire surveys were acquired from the published literature,and at the same time we collected inpatients without ear diseases as the control group,surveyed by questionnaires as well.2.Draw family pedigree maps for patients with a family history,the investigator askd information from the probands and their family members and complished physical examinations one by one.We plotted the family tree,and synthesized the clinical features.Finally,we could judge and verify its heredity laws.3.Sorted out and classified the survey data obtained,we used a case-control study,and performed chi-square tests to determine whether there were significant differences in all patients.After selecting significant influence factors,then we used a binary logistic regression analysis to select factors that have a significant impact,and establish a disease risk model to predict its risk,in order to study its potential clinical valuable rules.This study was investigated and examined by an ENT specialist.Results 1.Among all the study patients,143 patients were included,and the highest incidence of patients was prominent ear malformations which were 125 people,accounting for 87.41% of the total number of patients;8 patients with a family history,and all showed prominent ear malformations.2.8 patients were served as probands,there were 58 descendants and 24 patients among them,including 17 males and 7 females,all of whom were binaural patients without significant hearing loss.The results showed that the disease was transmitted continuously in these families,indicating that the disease-causing gene was a dominant gene.The incidence of the disease in the 8 family pedigrees was 41.38%,which was no statistically significant difference from the expected morbidity by chi-square test(P>0.05).Among the descendants,There was no significant difference between the actual morbidity and the expected morbidity(P>0.05).3.Weerda ? congenital auricle malformation patients had statistically significant differences in the place of residence during pregnancy,the mother's mode of production,the educational level of their parents,the history of folic acid supplementation during pregnancy and family history(P<0.05).4.Binary Logistic regression was performed on the statistically significant factors.The analysis showed that parents' educational level was negatively correlated with the occurrence of Weerda 1 auricle malformation,the OR values were 2.468 and 2.197.Also there were significant levels with the mother's production mode and folic acid supplement.The OR values were 1.786 ? 1.838,The risk of this disease in the parents' with low education is 2.468 and 2.197 times than the high one respectively,and the risk of natural birth is 1.786 times than cesarean delivery.The risk of this disease in mothers without routine folic acid supplementation during pregnancy is 1.838 times than the routine one.Conclusion 1.Prominent ears are the most common one in Weerda ? congenital auricle malformations,the disease is mainly sporadic,and there are family clusters as well.2.8families with a family history are autosomal dominant.Under genetic background and environmental factors,modified genes and external factors will affect the expression of majorgenes;3.Weerda ? congenital auricle malformations are related to parents 'education level,history of folic acid supplementation,production methods,family history and place of residence during pregnancy;Parents' education level of junior high school or below,no or irregular supplementation of folic acid during pregnancy,natural delivery are the main risk factors for Weerda ?congenital auricle malformations among them.