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克魯仲氏徵候群－壹病例報告
Crouzon Syndrome-A Case Report
摘要
Crouzon syndrome是一種顱顏面骨發育不良的疾病，通常與體染色體顯性遺傳有關，其臨床特徵包括：1.顱縫線封閉過早，2.中顏面骨發育不良，3.突眼。本文報告一克魯仲氏徵候群合併外斜視之病例，並追溯其家族史。
關鍵字
無資料並列摘要
We present a 69-year-old male who suffered from Crouzon syndrome. His external appearance showed frontal bossing, parrot-beaked nose, maxillary hypoplasia, and mandibular prognathism. Ocular examination revealed exophthalmos, extropia, ptosis and cataract. Fundus showed peripapillary myelination, OU. Skull film and clinical pictures could identify this case. Family history of this patient was also traced. Crouzon syndrome was considered to be an autosomal dominant disease. Germinal mosicism played an important role in this disease. The clinical pictures of Crouzon syndome include craniosynostosis, midfacial hypoplasia and exophthalmos. Premature closure of cranial sutures rusulted in increased intracranial pressure, so early diagnosis and treatment were the the most important goals to prevent neurological and visual deficits.
延伸閱讀
- 林金花、張乙朝（1991）。克魯仲氏徵候群之一家族病例報告。慈濟醫學雜誌，3(3)，230-236。https://doi.org/10.6440/TZUCMJ.199109.0230
- Ko, Y. C., Yen, M. Y., Wang, A. G., Hsu, W. M., & Liu, J. H. (2000). Wolfram氏症候群－病例報告. 中華民國眼科醫學會雜誌, 39(2), 207-212. https://doi.org/10.30048/ACTASOS.200006.0011
- 王志祿、劉治宇、喻永生、朱夢麟（1993）。羅威症候群：一病例報告。Acta Paediatrica Sinica，34(1)，45-53。https://www.airitilibrary.com/Article/Detail?DocID=00016578-199302-34-1-45-53-a
- 傳宙經、陳昌文（1986）。COGAN氏症候羣－病例報告。中華民國眼科醫學會雜誌，25(1)，167-170。https://doi.org/10.30048/ACTASOS.198605.0033
- 程麗敏、鄭明仁、黃敏生、李家福（1990）。Warburg Syndrome-Case Report。中華民國眼科醫學會雜誌，29(2)，1066-1070。https://doi.org/10.30048/ACTASOS.199005.0187