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一名患有18三体综合征的婴儿出现降落伞样二尖瓣、主动脉缩窄、桡骨发育不全和脐膨出。

Parachute mitral valve, coarctation of aorta, radius aplasia, and omphalocele in an infant with the trisomy 18 syndrome.

作者信息

Ishikawa S, Gilbert E F, Meisner L F, Gutcher G, Herrmann J

出版信息

Eur J Pediatr. 1979 Jan 18;130(1):59-64. doi: 10.1007/BF00441900.

Abstract

A premature infant with trisomy 18 had cardiac defects including parachute mitral valve, coarctation of the aorta, and a subcristal ventricular septal defect. The parachute mitral valve was funnel-shaped with a moderately-thick cone of fibrous tissue around the annulus and an eccentric orifice. Many forms of congenital cardiac defects have been described in the 18 trisomy syndrome. However, parachute mitral valve has not, to our knowledge, been part of the spectrum of cardiac defects in trisomy 18. Other anomalies were absent radii, omphalocele, and cleft palate and cleft lip; these have been observed previously in the 18 trisomy syndrome.

摘要

一名患有18三体综合征的早产儿存在心脏缺陷,包括降落伞样二尖瓣、主动脉缩窄和嵴下室间隔缺损。降落伞样二尖瓣呈漏斗状,瓣环周围有中等厚度的纤维组织圆锥,且有偏心孔。18三体综合征中已描述了多种先天性心脏缺陷。然而,据我们所知,降落伞样二尖瓣并非18三体综合征心脏缺陷谱的一部分。其他异常包括桡骨缺如、脐膨出以及腭裂和唇裂;这些在18三体综合征中此前已有观察到。

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