Goel Himanshu, Dudding Tracy
Hunter Genetics, Waratah, NSW, Australia; University of Newcastle, Callaghan, NSW, Australia.
Birth Defects Res A Clin Mol Teratol. 2013 Nov;97(11):755-8. doi: 10.1002/bdra.23200. Epub 2013 Nov 6.
The teratogenic effects of antenatal exposure of antithyroid drugs, carbimazole and methimazole have been well reported in the literature. These comprise of typical facial features and a wide variety of malformations such as choanal atresia, tracheo-esophageal anomalies, congenital heart disease and ectodermal defects. However, the longitudinal studies have failed to establish the consistent teratogenicity of these drugs.
we report here two siblings with physical features consistent with carbimazole/methimazole embryopathy. We also describe previously unreported minor dental anomalies in these siblings with antenatal exposure of carbimazole.
Generally, only a small proportion of prenatally exposed children have the typical manifestations, and the presence in siblings supports a possible hereditary susceptibility to carbimazole/ methimazole embryopathy. This highlights the importance of recognizing this diagnosis before a subsequent pregnancy.
文献中已充分报道了孕期接触抗甲状腺药物卡比马唑和甲巯咪唑的致畸作用。这些作用包括典型的面部特征以及多种畸形，如后鼻孔闭锁、气管食管异常、先天性心脏病和外胚层缺陷。然而，纵向研究未能证实这些药物致畸性的一致性。
我们在此报告两名具有与卡比马唑/甲巯咪唑胚胎病相符体征的兄弟姐妹。我们还描述了这些在孕期接触过卡比马唑的兄弟姐妹中以前未报告过的轻微牙齿异常情况。
一般来说，只有一小部分产前接触过药物的儿童有典型表现，而兄弟姐妹中出现这种情况支持对卡比马唑/甲巯咪唑胚胎病可能存在遗传易感性。这凸显了在后续妊娠前识别这一诊断的重要性。
