- 期刊
Spondyloepiphyseal Dysplasia Congenita: Report of One Case
先天性脊椎骨骺發育異常：一准則例報告
摘要
先天性脊椎骨骺發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骺端。本文報告一先天性脊椎骨骺發育異常之病例，其臨床特徵爲身材矮小、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。
關鍵字
先天性脊椎骨骺發育異常並列摘要
Spondyloepiphyseal dysplasia (SED) congenita is a rare disorder with autosomal dominant inheritance which demonstrates short stature since birth and displays progressive involvement of the spine and the epiphyses of long bones. We present a case of SED congenita with short stature since birth, flat midface, 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.
延伸閱讀
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