Retinoic acid embryopathy: case report and review of literature.
Retinoic acid embryopathy: case report and review of literature.
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视黄酸胚胎病：病例报告和文献综述。
DOI：
10.1080/15513819609169308
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
M. Alashari
中科院分区：
文献类型：
--
作者：
Suzanne Coberly;E. Lammer;M. Alashari
异维A酸用于治疗痤疮的用途已大大增加，随之而来的是相关出生缺陷的问题。我们认为病理学家应该熟悉异维A酸胚胎病及其发病机制，以帮助区分该综合征与其他涉及鳃弓缺陷的遗传综合征，例如迪乔治综合征或腭心面综合征。尽管选定的尸检结果已在流行病学报告中提出，但据我们所知，详细的尸检报告尚未发表。因此，我们希望提出一个完整的异维A酸胚胎病案例研究，阐明病理诊断标准并将其与临床发现相关联。尽管该综合征的主要特征是通过药物对神经嵴细胞的影响来解释的，但据推测异维A酸也会影响中枢神经系统的其他细胞。我们目前的病例支持这一理论，并表明神经系统的这些变化可能会带来显着的功能障碍，而在影像学研究或常规组织学检查中不会出现明显的解剖学变化。
Isotretinoin use as a treatment for acne has increased tremendously and, with it, the problems of associated birth defects. We feel that pathologists should be familiar with isotretinoin embryopathy and its pathogenesis in order to assist in differentiating this syndrome from other genetic syndromes that involve branchial arch defects, such as DiGeorge syndrome or velocardiofacial syndrome. Although selected autopsy findings have been presented in epidemiologic reports, to our knowledge a detailed autopsy report has not been published. We therefore wish to present a complete case study of isotretinoin embryopathy that illustrates the pathologic diagnostic criteria and correlates these with the clinical findings. Although the syndrome's major features are explained by the drug's effect on neural crest cells, it has been postulated that isotretinoin also affects other cells in the central nervous system. Our current case supports this theory and shows that these changes in the nervous system may present significant functional impairment, while not presenting visible anatomic changes on either imaging studies or routine histologic examinations.
异维A酸胚胎病和颅神经嵴：体内和体外研究。
DOI：
--
发表时间：
1986
期刊：
Journal of craniofacial genetics and developmental biology
影响因子：
--
作者：
Webster,WS;Johnston,MC;Lammer,EJ;Sulik,KK
通讯作者：
Sulik,KK