- 期刊
Spondyloepiphyseal Dysplasia Tarda: Report of One Case
遲發型脊椎骨骺發育不全：一病例報告
摘要
我們報告一位國人男孩罹患遲發型脊椎骨骺發育不全的病例。病人的矮小在5-10歲間才出現，5歲時病人的身高在50百分位，10.5歲來就診時已降至第2百分位，他的骨齡遲緩爲8歲，預估成人身高164.9公分。理學檢查發現軀幹特短，我們懷疑遲發性脊椎骨骺發育不全，脊椎骨X光發現與此病符合。全家人的SEDL基因分析，只在病人發現第五外子有5-bp的缺失，此突變與Mumm及Gedeon雙氏分別於2000及2001年報告的相同。
並列摘要
We report the clinical assessment and mutational analysis of one boy with spondyloepiphyseal dysplasia tarda (SEDT). His short stature manifested between age 5 and 10. As his growth slowed, his height fell from the mean for his age at 5 to the 2nd percentile at age 10.5. His bone age was retarded at 8 years, thus his predicted adult height was 164.9cm, not far from his target height of 170cm. However upon physical examination, he presented markedly short trunk. We suspected SEDT and X-ray finding of his spine supported this diagnosis. We performed DNA analysis on the SEDL gene and detected a 5-bp deletion in exon 5 which has been previously reported by Mumm et al. and Gedeon et al. in cases of SEDT.
延伸閱讀
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