Syndrome of microtia and aortic arch anomalies resembling isotretinoin embryopathy.
Syndrome of microtia and aortic arch anomalies resembling isotretinoin embryopathy.
复制标题
小耳畸形综合征和主动脉弓异常，类似于异维A酸胚胎病。
DOI：
10.1016/s0022-3476(87)80257-3
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
N. Taniguchi
中科院分区：
文献类型：
--
作者：
H. Kawashima;I. Ohno;Y. Ueno;S. Nakaya;E. Kato;N. Taniguchi
讨论 众所周知的一系列先天畸形与母亲使用异维A酸有关。受影响的婴儿通常有头面部缺陷（特别是耳朵小、畸形或缺失；小颌畸形和腭裂）、心脏（特别是圆锥干缺陷和主动脉弓异常）、胸腺和中枢神经系统（主要包括脑积水和后颅窝异常）。 H 我们报告的三名同胞的检查结果与异维A酸胚胎病或胎儿异维A酸综合征的诊断一致：每个人都有耳朵畸形和主动脉弓中断。我们的患者描述的其他颅面特征在胎儿异维A酸综合征中并非未知。然而，患者的母亲没有产前接触异维A酸的史，而且她的饮食也没有异常。异维A酸胚胎病中报告的畸形与人类和动物2 2 - s母体过量接触维生素A后所见的畸形相似。然而，我们患者的母亲在怀孕前或怀孕期间没有过量摄入维生素A的历史。同样，我们可以确定母亲没有接触任何其他类维生素A。鉴别诊断包括迪乔治综合征，该综合征还涉及耳朵异常和主动脉中断；然而，我们的病人有正常的竖琴-
DISCUSSIONA well-recognized constellation of congenital malformations is associated with the maternal use of isotretinoin. Affected infants typically have defects involving the head and face (especially small, malformed, or missing ears; micrognathia; and cleft palate), heart (particularly conotruncal defects and aortic arch abnormalities), thymus, and central nervous system (prominently including hydrocephalus and posterior fossa abnormalities). H The three sibs we report had findings consistent with a diagnosis of isotretinoin embryopathy or fetal isotretinoin syndrome: each had malformation of the ears and an interrupted aortic arch. The additional craniofacial features described in our patients are not unknown in fetal isotretinoin syndrome. The mother of the patients, however, had no prenatal history of exposure to isotretinoin, and her diet was not unusual.The malformations reported in isotretinoin embryopathy are similar to those seen after excessive maternal vitamin A exposure in humans l~ and animals2 2-~ s The mother of our patients, however, has no history of excess vitamin A consumption, either before or during pregnancy. Similarly, we could identify no maternal exposure to any other retinoid. The differential diagnosis includes DiGeorge syndrome, which also involves ear anomalies and interrupted aorta; however, our patient has normal lyre-