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点状软骨发育不良:胎儿华法林综合征病例报告

Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome.

作者信息

Songmen S, Panta O B, Paudel S S, Ghimire R K

机构信息

Department of Radiology and Imaging, Tribhuvan University Teaching Hospital, Kathmandu, Nepal.

Department of Radiology and Imaging, Koshi Zonal Hospital, Morang, Nepal.

出版信息

J Nepal Health Res Counc. 2017 Jan;15(1):81-84. doi: 10.3126/jnhrc.v15i1.18026.

Abstract

Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve. The pregnancy was complicated by polyhydramnios in third trimester and terminated at term by normal vaginal delivery. The baby was well, except for facial dysmorphism in the form of depressed nasal bridge, narrow nares and suspected left choanal atresia. Radiograph revealed stippled ephiphysis of vertebra, femora and humera supporting diagnosis of fetal warfarin syndrome. The baby did not develop any perinatal complication and was discharged home.

摘要

点状软骨发育不良是发育中骨骼的软骨出现异常钙化,已发现其与维生素K代谢紊乱有关。华法林是一种作用于维生素K依赖凝血因子的口服抗凝剂,已知可导致点状软骨发育不良。尽管对这种情况有所了解,但人工心脏瓣膜患者的治疗可能仍需要使用该药物进行抗凝。在此,我们报告一例27岁因人工心脏瓣膜服用华法林的女性所生二胎胎儿患华法林综合征的病例。妊娠晚期并发羊水过多,足月时经正常阴道分娩终止妊娠。婴儿情况良好,只是存在鼻梁凹陷、鼻孔狭窄和疑似左侧后鼻孔闭锁等面部畸形。X线片显示脊椎、股骨和肱骨骨骺有斑点状,支持胎儿华法林综合征的诊断。婴儿未发生任何围产期并发症,已出院回家。

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