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題 名 | Long-Term Follow-Up of Marshall-Smith Syndrome: Report of One Case=Marshall-Smith二氏症之長期追蹤:一病例報告 |
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作 者 | 侯家瑋; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 45:4 民93.07-08 |
頁 次 | 頁232-235+259 |
分類號 | 415.135 |
關鍵詞 | Marshall-Smith二氏症; 先天青光眼; 骨骼加速成熟; 上呼吸道阻塞; Marshall-Smith syndrome; Congenital glaucoma; Advanced skeletal maturation; Upper airway obstruction; |
語 文 | 英文(English) |
中文摘要 | Marshall-Smith二氏症(MSS)是一種罕見的行天多重畸形疾病,MSS三大特徵包括臉口畸形、生長遲緩及骨骼加速成熟。一名八歲男孩被報告爲此病,全併症狀有先天青光眼、角膜糜爛、喉頭軟化症、心房中膈缺損、慢性肺疾及脊椎側彎。因有嚴重的呼吸道阻塞而做氮切。乞今他有較以前文獻報告更長的壽命。細胞遺傳學並無異常,生化及代謝檢查出現低血鋅與低甲狀素濃度。除此之外,他亦有腦萎縮合併小腦、腦幹發育不全,與兩側水腎及輸尿管擴張。 |
英文摘要 | The Marshall-Smith syndrome (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, failure to thrive, and accelerated osseous maturation. An 8-year-old boy with MSS associated with congenital glaucoma, corneal erosion, laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis was reported. A tracheostomy with endotracheal tube insertion was performed for his difficult airway. He has longer survival time than those MSS patients hitherto reported. High-resolution chromosome banding and extensive metabolic investigation did not detect any abnormality, except for low blood levels of zinc and thyroxine. Besides, brain atrophy with hypoplastic cerebellum and brainstem, and bilateral hydronephrosis with hydroureter were detected by image studies. |
本系統中英文摘要資訊取自各篇刊載內容。