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摘要


顱鎖骨發育不全是一種罕見體染色體顯性(autosomal dominant)遺傳的疾病,男女發生的比率相當。臨床表徵多呈現嚴重骨骼及齒列發育異常,包括單側或雙側鎖骨部分或全部缺失、多發性阻生齒及贅生齒等。本文報告一位25歲台灣女性顱鎖骨發育不全病例於民國94年三月至台中榮總牙科部尋求齲齒診治,經口腔顎面外科醫師臨床及影像檢查後,初步臆斷爲顱鎖骨發育不全症候群,後經遺傳諮詢及放射線部醫師確定診斷爲顱鎖骨發育不良。本文討論詳細的臨床症狀與徵象、影像發現及團隊合作診治。

並列摘要


Cleidocranial dysplasia is a rare syndrome usually caused by an autosomal dominant gene without gender predilection. This condition is characterized by severe skeletal and dental malformations and underdevelopment, including partial or total absence of unilateral or bilateral clavicles, multiple impacted supernumerary teeth and impacted permanent teeth. In this article, a case of cleidocranial dysplasia of a 25-year-old Taiwanese female is reported. She visited Taichung Veterans General Hospital Department of Dentistry for the treatment of dental caries in March, 2005. Her abnormalities were diagnosed by Oral and Maxillofacial Surgeon, and was later certified by physician of Genetic Consultation and radiologist. Details of the clinical feature, radiographic findings, and management by means of team-work are discussed.

被引用紀錄


陳建舜(2006)。人類牙周韌帶細胞的分化、基因表現與對機械張力刺激反應之研究〔碩士論文,國立臺灣大學〕。華藝線上圖書館。https://doi.org/10.6342/NTU.2006.02669

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