叶 鹏,吴 洋,于慕刚

本文报道1例新生儿肺泡毛细血管发育不良（ACD/MPV）伴肺静脉失调，患儿以生后不久出现呼吸窘迫伴发绀，呼吸衰竭进展迅速为主要表现，全外显子检测提示FOXF1基因c.691_698delGCGGCGGC（p.Ala231Argfs*61）杂合变异，出生25小时家长放弃治疗死亡。

新生儿；FOXF1基因；肺泡毛细血管发育不良；呼吸衰竭

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