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頁籤選單縮合
題 名 | Prenatal Diagnosis of Lethal Osteogenesis Imperfecta: Report of a Case=致死性成骨不全的產前診斷--病例報告 |
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作 者 | 謝聰哲; 張峰銘; 陳杓熊; 白進發; 吳清華; 林秋瑾; 周邦新; 葉光芃; | 書刊名 | Journal of Medical Ultrasound |
卷 期 | 6:1 1998.03[民87.03] |
頁 次 | 頁43-47 |
分類號 | 417.14 |
關鍵詞 | 致死性成骨不全; 產前診斷; Osteogenesis imperfecta; Skeletal dysplasia; Prenatal diagnosis; Ultrasonography; |
語 文 | 英文(English) |
英文摘要 | Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility and deformity secondary to repetitive fractures. We present a case of a lethal form of OI detected at 16 weeks of gestation. Antenatal ultrasonographic features included micromelia of all extremities; curving of the humerus, femur radius and ulna bones bilaterally; and demineralization and compressibility of the cranium. The diagnosis was supported postnatally by radiographic evidence of multiple fractures of the long bones and demineralization of all bones, including the cranium. Prenatal diagnosis based on ultrasonography between 16 and 20 weeks of gestation is possible in lethal forms of OI. |
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