孤立型无鼻畸形

定义 英文原文（暂无中文）

An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.

别名

孤立性鼻发育不全

基本事实

遗传方式

不适用

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 12

外部标识与链接