先天性传导性或混合性耳聋、耳前窦、外耳道畸形和口角唇窝：一种常染色体显性遗传综合征。
Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.
作者信息
Marres H A, Cremers C W
机构信息
Department of Otorhinolaryngology, University of Nijmegen, The Netherlands.
出版信息
Ann Otol Rhinol Laryngol. 1991 Nov;100(11):928-32. doi: 10.1177/000348949110001113.
PMID:1746829
Abstract
Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.
摘要
鳃源性综合征，如鳃耳肾综合征、特雷彻·柯林斯综合征和半侧颜面短小畸形，已得到明确界定。通过对一个三代大家庭的临床研究可以得出结论，传导性耳聋、口角唇凹、耳前窦和外耳畸形的关联可与上述综合征相鉴别，是一种独立的常染色体显性综合征。
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