頁籤選單縮合
題 名 | Wolf-Hirschhorn (4p deletion) Syndrome: Report of One Case=Wolf-Hirschhorn症候群:一病例報告 |
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作 者 | 陳志強; 蔡輔仁; 林正介; 鄔哲源; 余明宗; 徐素玲; 施怡如; 張致渝; 賴世偉; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 41:1 民89.01-02 |
頁 次 | 頁39-42+53 |
分類號 | 417.133 |
關鍵詞 | Wolf-Hirschhorn症候群; 4p deletion症候群; Wolf-Hirschhorn syndrome; 4p deletion syndrome; |
語 文 | 英文(English) |
中文摘要 | Wolf-Hirschhorn(4p deletion)症候群是一種不常見的染色體异常疾病,其原因在於第四對染色體短臂缺損。主要臨床特徵包括生長遲缓、心智發育遲缓、顏面异常、中央缺與骨骼异常。本文報告一例Wolf-Hirschhorn症候群之病例,并回顧文獻對其臨床特征,處理與預後做進一步探討。 |
英文摘要 | Wolf-Hirschhorn syndrome is an uncommon chromosomal disorder caused by loss of material from the distal aspect of the short arm of chromosome 4. Its characteristic features include profound growth retardation with psychomotor delay, severe mental deficiency, facial dysmorphia, midline defects and skeletal anomalies. We herein report a case of 4p deletion syndrome and review related literature. |
本系統中英文摘要資訊取自各篇刊載內容。