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[1例Goldenhar综合征:孕期母亲急性维生素A中毒]

[A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy].

作者信息

Mounoud R L, Klein D, Weber F

出版信息

J Genet Hum. 1975 Jun;23(2):135-54.

PMID:812958
Abstract

The authors describe the case of a boy aged 2 1/2, who showed at birth a bilateral epibulbar dermoid, preauricular appendices on the left side and other malformations suggesting Goldenhar's syndrome. The history disclosed that in the second month of pregnancy the mother had accidentally swallowed 10 ml of an oily solution of Vitamin A during a laboratory manipulation. In their discussion, the autonrs analyse the teratogenic action of Vitamin A during embryonic development and review the aetiologies found in cases of Goldenhar's syndrome.

摘要

作者描述了一名2岁半男孩的病例,该男孩出生时双侧眼球表层皮样瘤、左侧耳前附件以及其他畸形,提示为Goldenhar综合征。病史显示,母亲在怀孕第二个月时,在实验室操作过程中意外吞服了10毫升维生素A油溶液。在讨论中,作者分析了维生素A在胚胎发育过程中的致畸作用,并回顾了Goldenhar综合征病例中发现的病因。

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