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題 名 | Thanatophoric Dysplasia Type I=致死性骨成形異常 |
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作 者 | 張德高; 王瑩; 古劉愛敏; 童瑞欽; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 42:1 民90.01-02 |
頁 次 | 頁39-41 |
分類號 | 417.132 |
關鍵詞 | 致死性骨成形異常; Thanatophoric dysplasia; Fibroblast growth factor receptor-3 gene; Dwarfism; |
語 文 | 英文(English) |
中文摘要 | 致死性骨成形異常是一種偶發,但近乎致命的先天性骨發育異常疾病。主要的特征爲四肢短小,嚴重的胸廓狹窄,巨頭及脊椎骨扁平。臨床上可分爲兩種亞型:第一型具有彎且短的股骨;第二型則股骨較長但合併大而扁的苜蓿頭型。近年來已發現止類患者的纖維母細胞生長因子第三接受器基因有突變情形,認爲致死性骨成形異常爲一由同源遺傳基因決定的先天性骨病變。大多數的罹病新生兒都死於呼吸衰竭,因爲胸廓狹窄所導致的肺發痛不全造成。産前超音波檢查可於懷孕中期早期診斷,但與非致死性骨疾病的鑑別診斷是非常重要的,目前利用産前基因篩檢此症似乎仍不實用。 |
英文摘要 | Thanatophoric dysplasia is a sporadic, nearly always lethal congenital skeletal dysplasia. It is characterized by shortening of the limbs, a severely small thorax, macrocephaly, and platyspondyly. There are two major subtypes: a short, curved femur characterizes type I. and a straighter femur with cloverleaf skull characterizes type II. Recently, mutations in the fibroblast growth factor receptor 3 (FGFR-3) gene have been identified in both subtypes, which suggest that thanatophoric dysplasia is a genetically homogenous skeletal disorder. Most affected neonates die of respiratroy failure, due to narrow thorax with pulmonary hypoplasia. Antenatal sonographic diagnosis is feasible in the second trimester of pregnancy, but differentiating thanatophoric dysplasia from non-lethal skeletal disorders is very important. At the present time, however, prenatal genetic screening seems unpractical. |
本系統中英文摘要資訊取自各篇刊載內容。