Carbimazole/methimazole embryopathy in siblings: A possible genetic susceptibility. Issue 11 (6th November 2013)

• Record Type: Journal Article
• Authors: Goel, Himanshu; Dudding, Tracy
• Is Part Of: Birth defects research. Volume 97:Issue 11(2013:Nov.)
• Page Start: 755
• Page End: 758
• Publication Date: 2013-11-06
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23200
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23200-sec-0001" sec-type="section"> <title>BACKGROUND</title> <p>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.</p> </sec> <sec id="bdra23200-sec-0002" sec-type="section"> <title>CASES</title> <p>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.</p> </sec> <sec id="bdra23200-sec-0003" sec-type="section"> <title>CONCLUSION</title> <p>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. <italic>Birth Defects Research (Part A) 97:755–758, 2013</italic>. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>