The Preliminary Study For The Genetic Characteristics Of The Congenital Microtia Patients

ObjectiveTo survey the phenotype feature of the congenital microtia patients and their family history, and preliminarily study the genetic characteristcs of the congenital microtia patients.Method1. Continuous congenital microtia inpatients were selected as the objects. Overall clinical physical examination and relevant laboratory andimageo-logical examination were taken on each patients. The detailed information were recorded.2. Questionnaire survey were used in all the non-syndromic microtia patients. The detailed information for the relatives’congenital ear deformity were recorded.3. Classified statistic and analysis were carried on both the clinical and familial data to study the potential value.Result1. Phenotype feature:In the study, there is obvious sex diversity (male77.5%, female22.5%) in the morbidity. In the unilateral patients(98.1%), the right side(64.0%) is more frequently affected. Preauricular tags/pits(12.8%) is the most common physical sign except for auditory meatus deformity and hemefacial microsomia.2. Familial ear deformity characteristcs:In the study, the proportion of the patients who have auricle deformity familial history is15.9%。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%)ConclusionIn the study, there is sex (male) and affected side(right) predilection in congenital microtia patients. Preauricular 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 is0.8%. The disease model of the non-syndromic microtia needs further study.