Nevin N C
J Laryngol Otol. 1977 Aug;91(8):709-16. doi: 10.1017/s0022215100084243.
Two families are presented in which affected members had deafness, preauricular sinuses, branchial fistulae and malformation of the external ear. In Family I, a renal abnormality was an associated feature. In Family 2, two individuals had an abnormality of the incudostapedial joint. In both families inheritance was autosomal dominant with variable expressivity. The occurrence of external-ear malformations, branchial fistulae, and preauricular sinuses should indicate the need to search for a hearing loss not only in the patient but amongst relatives.
本文报告了两个家系，其中受累成员患有耳聋、耳前窦、鳃裂瘘和外耳畸形。在家族I中，肾脏异常是一个相关特征。在家族2中，有两个人存在砧镫关节异常。在这两个家族中，遗传方式均为常染色体显性遗传，表现度可变。外耳畸形、鳃裂瘘和耳前窦的出现表明，不仅要在患者中，而且要在亲属中寻找听力损失。
