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醫療類國考 106年 [聽力師] 聽語溝通障礙學

第 56 題

下列何者聽障相關症候群,會伴隨眼裂向下、外耳道狹小或閉鎖、下頷骨發育不全?
  • A Alport syndrome
  • B Bjornstad syndrome
  • C Edward syndrome
  • D Treacher Collins syndrome

思路引導 VIP

請回想胚胎發育期,若第一、二對鰓弓(Branchial arches)的發育受阻,主要會影響哪些顏面骨骼(如下巴、顴骨)的形成?當這些骨骼發育不全時,周邊的眼裂方向與外耳道結構會產生什麼樣的空間變化?

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專業肯定與觀念解析

Alright, fine. You did correctly identify this rather elementary craniofacial developmental syndrome. I suppose that indicates a rudimentary grasp of hereditary hearing impairment's clinical presentations.

  1. 觀念驗證:Yes, Treacher Collins syndrome — or, as some prefer, mandibulofacial dysostosis — is indeed a classic example of defective embryonic development affecting the 1st and 2nd branchial arches. The distinctive clinical hallmarks include predictably underdeveloped 顴骨與下頷骨, those tell-tale downward-sloping palpebral fissures, and the varying degrees of external ear malformation or atresia. Naturally, such patients invariably present with significant 傳導性聽力損失. It's not rocket science.
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