- 期刊
The 18 p(superscript -) Syndrome: Peport of One Case
18 p(superscript -) 症候群：一病例報告
摘要
染色體18 p(superscript -) 症候群的臨床表現不具特異性，常見的外觀異常有身材矮小、內眥贅 皮、斜視、圓臉、智能發展遲滯等現象，且常合幷有lgA分泌不足、甲狀腺功能低下，類風濕性關節炎等全身性疾病。本報告是一位14個月大的男嬰，因智能發展尺滯而就診。理學檢查可發現有身材矮小（身高低於第三百分點，頭圖、體重低於第十百分點）、圓臉、張口伸舌、眼距過寬等，至於其他器官及免疫功能則是正常。 因18 p(superscript -) 症候群是以多重異常表現，不易由臨床表微作爲診斷依據，故提此病例報告。本文幷就此症各種臨床差異以及成因提出討論。
關鍵字
無資料並列摘要
Deletion of the short arm of chromosome 18 is more difficult to diagnose than most of other chromosomal abnormalities as the phenotypic picture is not specific enough to establish the diagnosis. Mental retardation, short stature, and hypertelorism were some of the prominant features of the syndrome. Some systemic diseases, such as congenital heart disease, hypothyroidism, IgA deficiency, were reported to be associated with this syndrome. We present a 14-month-old male baby with a round face, protruding tongue, hypertelorism, epicanthal folds, short stature, and psychomotor retardation to be a case of chromosome 18p. This was a de novo deletion and was not detected till the patient's second admission to our hospital. However, there was no other systemic disease could be found. The experience learned from this patient suggests that individuals with multiple congenital anomalies and psychomotor impairment, regardless of the severity, may warrant cytogenetic analysis.
延伸閱讀
- 黃碧桃、王昇、詹崑源、孟春昌（1979）。Trisomy-18症候羣之一報告例。Acta Paediatrica Sinica，20(1)，47-50。https://www.airitilibrary.com/Article/Detail?DocID=00016578-197903-20-1-47-50-a
- Chang, W. E., & Wu, L. S. (2007). Lemierre's症候群：一病例報告. 內科學誌, 18(5), 287-292. https://doi.org/10.6314/JIMT.2007.18(5).09
- Lin, Y. H., Mo, L. R., Tseng, L. J., Lin, Y. W., Young, T. M., Chao, J. H., & Tsai, C. C. (2000). Mirizzi氏症候群：17例之回顧分析. 中華民國消化系醫學雜誌, 17(4), 257-262. https://doi.org/10.6557/GJTb.200012_17(4).0003
- Ma, Y. C., Shyur, S. D., Huang, L. H., Wu, J. Y., & Lin, S. C. (2004). 高免疫球蛋白M症候群：一病例報告. Acta Paediatrica Taiwanica, 45(6), 334-339. https://doi.org/10.7097/APT.200412.0334
- 林世俊、江建昌、朱光恩、洪子仁、邱文祥（2022）。COVID-19感染後症候群。臺灣醫界，65(12)，28-32。https://www.airitilibrary.com/Article/Detail?DocID=17263603-202212-202212190011-202212190011-28-32