先天性耳前瘘管的遗传学探讨

Congenital preauricular fistula and its inheritance

先天性耳前瘘管由胚胎发育异常引起。本文收集了12例患者的家族系谱,均具有以下特点:男女性别患者均可以遗传给后代,后代同胞中男、女均可发病,后代的瘘管显性度大多数超过1/3,大多数单侧或双侧性瘘管患者与后代相同。表明先天性耳前瘘管属常染色体显性遗传。

Congenital preauricular fistula is a common abnormality consequent on deficiency of embryonal development. In order to evaluate the expressivity of the disease,we have studied the familial incidence of 12 cases. The results are as follows: ①The disease is not sex-linked. ②It is of autosomal dominant in type. ③They inherit either in the same side or both sides. ④Three or more generations of all cases except two are investigated. Among them,the second generation of 8 cases have an expressivity being equal to or more than 1/3. Its variety is tentatively discussed.