类马方综合征De Silva型

定义 英文原文（暂无中文）

A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.

基本事实

发病年龄

成年期、儿童期

患病率

<1 / 1 000 000

外部标识与链接