Jahrsdoerfer R A, Jacobson J T
Department of Otolaryngology-Head and Neck Surgery, University of Texas-Houston, Health Science Center 77030.
J Am Acad Audiol. 1995 Jan;6(1):93-102.
Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder, the phenotypic expression of which is seen in the head and neck area. The syndrome has full penetrance but variable expressivity even among family members, and recent investigation has reported gene site on chromosome 5q. TCS has a reported prevalence of 1 in 50,000 live births with about 40 percent of new occurrences resulting from a positive family history and a 60 percent new mutation rate. The clinical features of TCS involve bilateral abnormalities of the pinnae, external auditory canal, tympanic membrane, and middle ear space. Microtia has been reported to be as high as 85 percent, with one third of patients presenting with stenosis or complete atresia. Treacher Collins patients present with maximum conductive hearing loss often compounded by a high-frequency sensory component. This article describes the otologic and audiologic diagnosis and management of TCS.
特雷彻·柯林斯综合征（TCS）是一种常染色体显性遗传病，其表型表现见于头颈部区域。该综合征具有完全外显率，但即使在家庭成员中其表现度也存在差异，最近的研究报告了5号染色体长臂上的基因位点。据报道，TCS在活产婴儿中的患病率为1/50000，约40%的新发病例有家族遗传史，新突变率为60%。TCS的临床特征包括耳廓、外耳道、鼓膜和中耳腔的双侧异常。据报道，小耳畸形的发生率高达85%，三分之一的患者存在狭窄或完全闭锁。特雷彻·柯林斯综合征患者表现为最大程度的传导性听力损失，常伴有高频感觉成分的听力损失。本文描述了TCS的耳科和听力学诊断及治疗。
