頁籤選單縮合
題 名 | Spondyloepiphyseal Dysplasia Congenita: Report of One Case=先天性脊椎骨骺發育異常:一病例報告 |
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作 者 | 賴世偉; 蔡輔仁; 陳志強; 林正介; 彭慶添; 蔡長海; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 40:3 民88.05-06 |
頁 次 | 頁189-191+206 |
分類號 | 417.6264 |
關鍵詞 | 先天性脊椎骨骺發育異常; Spondyloepiphyseal dysplasia congenita; |
語 文 | 英文(English) |
中文摘要 | 先天性脊椎骨�接o育異常是一種罕見的遺傳性異生症,特徵是身材矮小,主要侵犯脊椎骨與長骨的骨�捱搳C本文報告一先天性脊椎骨�接o育異常之病例,其臨床特徵為身材矮小、臉部平坦、頸部短、桶狀胸、腰椎前凸、近視與脊椎體呈橢圓形。神經學檢查與智力發展皆正常。 |
英文摘要 | Spondyloepiphyseal dysplasia (SED) congenita is a rare disorder with autosomal dominant inheritance vhich demonstrates short stature since birth and displays progressive involvement of the spine and the piphyses of long bones. We present a case of SED congenita with short stature since birth, flat nidface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, ovoid-shaped vertebral bodies. Neurological examination is normal. No specific biochemical change or intellectual impairment can be discerned. |
本系統中英文摘要資訊取自各篇刊載內容。