Wolf-Hirschhorn (4P Deletion) Syndrome: Report of One Case

Wolf-Hirschhorn症候群：一病例報告

陳志強(Chee-Keong Tan) ； 蔡輔仁(Fuu-Jen Tsai) ； 林正介(Cheng-Chieh Lin) ； 鄔哲源(Jer-Yuarn Wu) ； 余明宗(Ming-Tsung Yu) ； 徐素玲(Su-Lin Hsu) ； 施怡如(Yi-Ru Shi) ； 張致渝(Judy Chih-Yu Chang) ； 賴世偉(Shih-Wei Lai)

《Acta Paediatrica Taiwanica》 41卷1期 (2000/02) Pp. 39-42

https://doi.org/10.7097/APT.200002.0039

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。

關鍵字

Wolf-Hirschhorn症候群 ； 4p deletion症候群

並列摘要

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.

並列關鍵字

Wolf-Hirschhorn syndrome ； 4p deletion syndrome