Choanal atresia and hypothelia following methimazole exposure in utero: a second report.

Choanal atresia and hypothelia following methimazole exposure in utero: a second report.
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子宫内甲硫咪唑暴露后后鼻孔闭锁和后鼻孔发育不良:第二份报告。

DOI:
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发表时间:
1998
期刊:
American journal of medical genetics
影响因子:
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通讯作者:
Dian Donnai
Dian Donnai
中科院分区:
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文献类型:
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作者:
L. Wilson;Bronwyn Kerr;R. Wilkinson;C. Fossard;Dian Donnai

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我们报告一个3岁男孩,双侧后鼻孔闭锁,乳头发育不全,发育迟缓,谁曾暴露于卡比马唑在子宫内,因为母亲的格雷夫斯病。他的异常和面部外观的组合非常类似于以前报道的儿童暴露于甲巯咪唑(这是卡比咪唑的活性代谢物)在子宫内。我们认为这是一种罕见但独特的甲巯咪唑致畸综合征,可能与孕早期暴露有关。认识到这种致畸作用对于遗传咨询和以后怀孕的管理显然是重要的。
We report on a 3-year-old boy with bilateral choanal atresia, hypoplastic nipples, and developmental delay who had been exposed to carbimazole in utero because of maternal Graves disease. His combination of abnormalities and facial appearance strongly resembles that of a previously reported child exposed to methimazole (which is the active metabolite of carbimazole) in utero. We suggest that this represents a rare but distinct syndrome of methimazole teratogenicity, probably related to first-trimester exposure. Recognition of such teratogenic effects is clearly important for genetic counselling and for management of subsequent pregnancies.
妊娠期抗甲状腺药物使用回顾及皮肤发育不良一例报告。
DOI: 10.1089/thy.1994.4.129
发表时间: 1994
期刊: Thyroid : official journal of the American Thyroid Association
影响因子: --
作者:
Mandel,SJ;Brent,GA;Larsen,PR
通讯作者: Larsen,PR