Pauli R M, Madden J D, Kranzler K J, Culpepper W, Port R
J Pediatr. 1976 Mar;88(3):506-8. doi: 10.1016/s0022-3476(76)80281-8.
An infant is described who has clinical manifestations and roentgenographic features consistent with the diagnosis of chondrodysplasia punctata. The mother of this infant received warfarin during pregnancy. Eight cases demonstrating an association between warfarin therapy during pregnancy and chondrodysplasia punctata in the child have been reported; in the present case therapy was initiated following conception (see following case report). Warfarin may be teratogenic, producing a phencopy of the heritable forms of chondrodysplasia punctata. Because of the evident association we suggest (1) warfarin is contraindicated in pregnancy and alternative anticoagulants should be used; (2) products of at-risk pregnancies should be screened for the characteristic radiologic findings; and (3) preconceptual counselling and antenatal diagnosis of the disease may be beneficial.
本文描述了一名具有与点状软骨发育不良诊断相符的临床表现和X线特征的婴儿。该婴儿的母亲在孕期接受了华法林治疗。已有8例报告显示孕期华法林治疗与儿童点状软骨发育不良之间存在关联；在本病例中，治疗在受孕后开始（见以下病例报告）。华法林可能具有致畸性，可产生遗传性点状软骨发育不良的表型。鉴于这种明显的关联，我们建议：（1）孕期禁用华法林，应使用其他抗凝剂；（2）对有风险的妊娠产物应进行特征性放射学检查；（3）孕前咨询和该病的产前诊断可能有益。
