- 期刊
Liveborn Trisomy 22: Report of One Case
活產22三染色體：一病例報告
摘要
作者報告一例具有多種先天性異常的三染色體22症的活產女嬰。其臨床表徵包括生長遲滯、低肌張力、耳廓前竇、耳位低下、眼距過寬、後髮際低下，小頷、顎裂、先天性心臟病、肛門閉鎖併肛門會陰瘻管、髖關節攣縮以及搖椅樣腳。病人於出生二個月後因表皮葡萄球菌敗血症死亡。三染色體22症會引起嚴重的先天性畸形，因此活產病例相當少見。本文就此種病症的臨床表徵覆閱文獻資料作進一步的討論。
關鍵字
無資料並列摘要
A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom fret. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.
延伸閱讀
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