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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。

相似文献

1
[A case of Goldenhar syndrome: acute vitamin A intoxication in the mother during pregnancy].[1例Goldenhar综合征:孕期母亲急性维生素A中毒]
J Genet Hum. 1975 Jun;23(2):135-54.
2
Goldenhar's syndrome and phocomelia. Case report and etiologic considerations.戈尔登哈综合征与短肢畸形。病例报告及病因学探讨。
Am J Ophthalmol. 1971 Sep;72(3):618-21. doi: 10.1016/0002-9394(71)90862-2.
3
Oculoauriculovertebral dysplasia (Goldenhar's syndrome). A report of five cases and a discussion of etiologic considerations.眼耳脊椎发育不良(戈尔登哈综合征)。5例报告及病因探讨。
Clin Pediatr (Phila). 1973 Nov;12(11):631-3.
4
Goldenhar's syndrome.戈尔登哈综合征
Bull Soc Belge Ophtalmol. 1984;211:7-14.
5
[Goldenhar's syndrome].[戈尔登哈综合征]
Bol Med Hosp Infant Mex. 1976 Nov-Dec;33(6):1423-33.
6
Goldenhar's syndrome associated with multiple congenital abnormalities.戈尔登哈综合征伴多种先天性异常。
J Trop Pediatr. 2005 Dec;51(6):377-9. doi: 10.1093/tropej/fmi020. Epub 2005 Sep 26.
7
[Goldenhar's syndrome].[戈尔登哈综合征]
Bull Soc Ophtalmol Fr. 1971 Sep-Oct;71(9):931-6.
8
[Oculo-auriculo-ventricular dysplasia: Goldenhar's syndrome. Report of 2 cases and review of the literature].[眼-耳-心室发育异常:戈尔登哈综合征。2例报告及文献复习]
Bol Asoc Med P R. 1975 Nov;67(11):333-8.
9
Goldenhar's syndrome, typical and atypical forms. Report of two cases.戈尔登哈综合征,典型与非典型形式。两例报告。
Acta Chir Plast. 1974;16(2):78-84.
10
Congenital cardiac anomalies in Goldenhar's syndrome. (Oculo-auriculo-vertebral dysplasia).Goldenhar综合征中的先天性心脏异常。(眼-耳-脊椎发育不良)
Turk J Pediatr. 1974 Jul;16(3):124-9.

引用本文的文献

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Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders.产前视黄酸暴露揭示了颅面畸形候选基因。
Sci Rep. 2018 Nov 30;8(1):17492. doi: 10.1038/s41598-018-35681-0.
2
Goldenhar Syndrome: A Case Report with Review.戈尔登哈综合征:一例病例报告及文献复习
Int J Clin Pediatr Dent. 2016 Jul-Sep;9(3):278-280. doi: 10.5005/jp-journals-10005-1377. Epub 2016 Sep 27.
3
Goldenhar syndrome - review with case series.Goldenhar综合征——病例系列综述
J Clin Diagn Res. 2014 Apr;8(4):ZD17-9. doi: 10.7860/JCDR/2014/7926.4260. Epub 2014 Apr 15.
4
A case of Goldenhar-Gorlin syndrome with unusual association of hypoplastic thumb.1例伴有发育不全拇指异常关联的Goldenhar-Gorlin综合征病例。
Indian J Ophthalmol. 2008 Mar-Apr;56(2):150-2. doi: 10.4103/0301-4738.39123.
5
Goldenhar syndrome and hemifacial microsomia: observations on three patients.戈尔登哈综合征与半侧颜面短小畸形:三例患者观察报告
Eur J Pediatr. 1980 May;133(3):287-92. doi: 10.1007/BF00496092.
6
Epidemiological aspects of prenatal exposure to high doses of vitamin A in Spain.西班牙孕期高剂量维生素A暴露的流行病学特征
Eur J Epidemiol. 1990 Jun;6(2):118-23. doi: 10.1007/BF00145783.
7
Vitamin A, liver consumption, and risk of birth defects.维生素A、肝脏摄入量与出生缺陷风险
BMJ. 1990 Nov 24;301(6762):1176. doi: 10.1136/bmj.301.6762.1176.
8
Environmental teratogens.环境致畸物
Bull N Y Acad Med. 1990 Mar-Apr;66(2):123-63.
9
Induced and genetic mouse middle ear ossicular malformations: a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesis.诱导性和遗传性小鼠中耳听小骨畸形:人类畸形性听骨疾病的模型及阐明其正常个体发生的工具。
Surg Radiol Anat. 1992;14(3):227-32. doi: 10.1007/BF01794945.