CAJ | 학술논문

对两例先天性巨结肠症(HD)患儿家系进行听力学调查.家系1先证者为遗传性感音神经性听力损失,其姐虽无HD,但也有轻度感音性听力损失;家系2先证者仅为HD而无耳聋,但其兄无HD,却有外耳畸形显示传音性听力障碍,其父有轻度耳廓畸形及感音性听力障碍,说明HD可伴发先天性感音神经性耳聋.
대량례선천성거결장증(HD)환인가계진행은역학조사.가계1선증자위유전성감음신경성은력손실,기저수무HD,단야유경도감음성은력손실;가계2선증자부위HD이무이롱,단기형무HD,각유외이기형현시전음성은력장애,기부유경도이곽기형급감음성은력장애,설명HD가반발선천성감음신경성이롱.
Audiologic study has been done for two families of Hirschsprung's disease(HD). Sensorineural deafness and HD were diagnosed in the propositus of the first famil, His elder sister has mild sensory deafness but no HD.It proves that besides familial HD. familial sensorineural deafness can be present. Only HD was diagnosed in the propositus of the second family, but without deafness. Though his brother wasn't HD. he suffered from multiple congenital malformation including malformation of external ear resulting in conductive deafness. His father suffered from mild malformation of auricle and sensory deafness. It suggests that the patients of HD can also be affected by other malformation and congenital sensorineural deafness.