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Cockayne症候羣－病例報告
Cockayne Syndrome-A Case Report
摘要
Cockayne 症候群又稱Mickey Mouse症候群，是一種合併網膜色素病變，聽力障礙的矮小症。本篇報告一5歲男孩，面貌狀如老人、小頭、四肢細長、走路不穩、智能障礙。眼部外斜視，眼底視網膜色素病變及視神經萎縮。
關鍵字
無資料並列摘要
Cockayne, in 1936, described a syndrome of ”dwarfism with retinal atrophy and deafness” in two siblings. The features of the syndrome were: a clinical onset in the second year of life after a normal infancy, dwarfism with kyphosis and ankylosis, disproportionately long extremities and large hands and feet, a lack of subcutaneous fat of the face with prognathism, sunken eyes and thin nose giving a prematurely senile appearance, mental deficiency, sensitivity of the skin to sunlight with pigmentation and scarring, retinal degeneration with pigmentation, optic atrophy, cataract, partial deafness, unsteady gait, thickened and carious teeth. We report a case, a five-year-old boy, with this typical features.
延伸閱讀
- 翁林仲、許志良、張志豪、柯良時、柯佑民（1991）。Cockayne's症候群－病例報告。中華民國眼科醫學會雜誌，30(4)，211-214。https://doi.org/10.30048/ACTASOS.199112.0163
- Hsin, S. C., Hsieh, M. C., Hwang, S. J., Hsia, P. J., Tsay, K. B., & Shin, S. J. (2002). Carney 症候群－病例報告. The Kaohsiung Journal of Medical Sciences, 18(12), 627-631. https://doi.org/10.6452/KJMS.200212.0627
- Wang, L. Y., Hsu, C. H., Shih, S. L., & Lin, S. P. (1997). Robinow症候群：一病例報告. Acta Paediatrica Sinica, 38(3), 235-238. https://doi.org/10.7097/APS.199706.0235
- Wu, K. A., Liao, C. Y., Perng, W. C., & Wu, C. P. (2006). Kartagener氏症候群－病例報告及文獻回顧. 胸腔醫學, 21(3), 255-260. https://doi.org/10.29806/TM.200606.0005
- 簡美華、林淑妍（1987）。Brown's Syndrome-Two Cases Report。中華民國眼科醫學會雜誌，26(1)，224-228。https://doi.org/10.30048/ACTASOS.198705.0041