维生素K拮抗剂胎儿胚胎病
Vitamin K antagonist embryofetopathy
定义 英文原文(暂无中文)
Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.
别名
维生素K拮抗剂胚胎病
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 产前、新生儿期
临床表型 26
极常见 99–80%5
- 鼻孔前翻 HP:0000463
- 鼻梁塌陷 HP:0005280
- 骨骺点状钙化 HP:0010655
- 椎体点状钙化 HP:0008420
- 短鼻 HP:0003196
常见 79–30%6
- 短指(趾) HP:0001156
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 呼吸功能不全 HP:0002093
- 末节指骨短 HP:0009882
- 短颈 HP:0000470
偶见 29–5%15
- 心血管系统形态异常 HP:0030680
- 眼睛发育缺陷/不全 HP:0008056
- 白内障 HP:0000518
- 鼻后孔闭锁 HP:0000453
- 听力受损 HP:0000365
- 脑积水 HP:0000238
- 眼距过宽 HP:0000316
- 肌张力减退 HP:0001252
- 巨舌症 HP:0000158
- 小耳畸形 HP:0008551
- 脊髓脊膜膨出 HP:0002475
- 视神经萎缩 HP:0000648
- 眼球突出 HP:0000520
- 癫痫发作 HP:0001250
- 视觉障碍 HP:0000505
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
- 中文病名:Orphanet 中文包,冻结于 2020-06-01
- 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)