一例疑似致畸性前脑无裂畸形病例。
A case of suspected teratogenic holoprosencephaly.
作者信息
Stabile M, Bianco A, Iannuzzi S, Buonocore M C, Ventruto V
出版信息
J Med Genet. 1985 Apr;22(2):147-9. doi: 10.1136/jmg.22.2.147.
Abstract
A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal way in which embryonic fields develop.
摘要
报道了一例全前脑畸形病例，其母亲在妊娠前5个月期间服用了高剂量的雌孕激素。对该家族的调查未发现任何身体异常迹象。在先证者中检测到正常的核型。作者认为，该病例可能为胚胎区域发育的正常和异常方式提供一些线索。
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