Klockars Tuomas, Suutarla Samuli, Kentala Erna, Ala-Mello Sirpa, Rautio Jorma
Department of Otorhinolaryngology, Kymenlaakso Central Hospital, Kotkantie 41, 48210 Kotka, Finland.
Int J Pediatr Otorhinolaryngol. 2007 Nov;71(11):1783-8. doi: 10.1016/j.ijporl.2007.08.002. Epub 2007 Sep 14.
To study the inheritance of microtia in the Finnish population, identify families for genetic linkage analyses and compare the phenotype between sporadic and familial patients.
Retrospective case series and patient questionnaire of 109 microtia patients referred for reconstruction of the earlobe to the Helsinki University Central Hospital during the years 1980-2005.
22 out of the 109 patients had a relative with microtia or preauricular tag. The familial and sporadic patients did not differ in microtia phenotype or sex distribution. Urinary system anomalies were statistically more prevalent in familial patients (p<0.01). The analyses of the birthplace of parents or grandparents of familial or sporadic microtia patients resulted in no evidence for founder effect.
The prevalence of familial microtia/OAVS in the Finnish population is higher than 20%. The sporadic and familial microtia/OAVS patients do not differ in the phenotype or sex distribution. The mode of inheritance seems to be autosomal dominant with incomplete penetrance.
研究芬兰人群中耳郭畸形的遗传情况，识别适合进行基因连锁分析的家系，并比较散发性和家族性患者的表型。
对1980年至2005年间转诊至赫尔辛基大学中心医院进行耳垂重建的109例耳郭畸形患者进行回顾性病例系列研究和患者问卷调查。
109例患者中有22例有亲属患有耳郭畸形或耳前赘生物。家族性和散发性患者在耳郭畸形表型或性别分布上无差异。泌尿系统异常在家族性患者中在统计学上更为普遍（p<0.01）。对家族性或散发性耳郭畸形患者父母或祖父母出生地的分析未发现奠基者效应的证据。
芬兰人群中家族性耳郭畸形/耳、鼻、喉综合征的患病率高于20%。散发性和家族性耳郭畸形/耳、鼻、喉综合征患者在表型或性别分布上无差异。遗传模式似乎是常染色体显性遗传且具有不完全外显率。
