Har-El G, Hadar T, Krespi Y P
Department of Otolaryngology, SUNY-Health Sciences Center, Brooklyn.
Ear Nose Throat J. 1991 Nov;70(11):777-82.
A family with three generations of male-to-male transmission of a rare syndrome is presented. The syndrome includes bilateral cervical branchial sinuses, bilateral preauricular sinuses, bilateral malformed auricles and bilateral hearing impairment. Two important aspects of this syndrome are discussed. First, male-to-male transmission rules out a sex-linked mode of inheritance. Second, the finding of both conductive and sensorineural hearing loss is puzzling since the middle and inner ear differ in embryogenesis as to both origin and timing. Few explanatory mechanisms are discussed.
本文介绍了一个患有罕见综合征且存在三代男性传男性现象的家族。该综合征包括双侧颈鳃窦、双侧耳前窦、双侧耳廓畸形和双侧听力障碍。文中讨论了该综合征的两个重要方面。第一,男性传男性现象排除了X连锁遗传模式。第二,传导性和感音神经性听力损失的发现令人困惑,因为中耳和内耳在胚胎发生的起源和时间方面均存在差异。文中还讨论了一些可能的解释机制。