21/21轉位性唐氏症併心臓異位症－一病例報告－

21/21 Translocation Down Syndrome with Ectopia Cordis-A Case Report-

林家璽(Kar-Shii Lin) ； 吳俊仁(Jiunn-Ren Wu) ； 鄭琇芳(Shiow-Fang Cheng) ； 黃德揚(Teh-Yang Huang) ； 趙美琴(Mei-Chyn Chao) ； 陳正中(Cheng-Chung Chen) ； 陳少勳(Shaou-Hisum Chen) ； 林永哲(Young-Tso Lin) ； 簡崇和(Shung-Ho Chieng)

《Acta Paediatrica Sinica》 27卷2期 (1986/04) Pp. 151-154

摘要

心臟異位症，或「外心人」是先天性心臟病中罕見的疾病。本文報告的病例爲出生四小時大之男嬰，出生時即可看到露出於的胸腔外跳動的心臟。除此特徵外，尚有扁平臉，兩眼間距離過遠，前胸壁與腹腔間缺損約5×6cm，右手六指症，左手正常。所以病兒立即由婦産科醫院轉到本院住院檢查。胸部X光攝影顯示肺部均有肋膜滲液，雙向心臟超音波檢查發現有心室中福缺損，染色性檢查結果爲46，XY，-21，+t(21q;21q)，診斷爲合併有轉位型唐氏在候羣。開刀是將位置異常和曝露的心臟放置於正常的解剖位置爲主要的治療方法。

並列摘要

”Ectopia cordis” describes a condition in which the heart is partially or totally outside the thorax. A newborn, 4 hours old, was transferred to Kaohsiung Medical College because the heart had been outside the thorax since birth. The chest film showed both side lung effusion. A 2-Dimension echocardiogram with apical 4-chamber view demonstrated a ventricular septal defect. Chromosome study revealed 46, XY, -21, +t (21q; 21q). Resettlement of the exposed heart into the chest cavity and repair of the thoracoabdominal wall defect were made. The patient died four hours following the surgery. Postmortem examination showed a ventricular septal defect.

並列關鍵字

ectopia cordis ； translocation Down syndrome