THE FETAL VALPROATE SYNDROME

THE FETAL VALPROATE SYNDROME
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DOI:
10.1002/ajmg.1320190308
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发表时间:
1984-01-01
期刊:
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子:
--
通讯作者:
CURRY, CJR
CURRY, CJR
中科院分区:
其他
文献类型:
--
作者:
DILIBERTI, JH;FARNDON, PA;CURRY, CJR

文献摘要

被引文献

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在子宫内暴露于丙戊酸钠(或丙戊酸)的儿童(7)进行了评估。在所有7例中观察到一致的面部表型,另外4例观察到其他出生缺陷。面部变化包括:在眶下沿下方和外侧延伸的外眦褶皱形成折痕或沟槽,扁平鼻梁,小鼻梁上翘,上唇较长,中唇较浅,上朱红色边缘薄,嘴角向下倾斜。男性尿道下裂、斜视、精神运动迟缓2例;2例患儿有眼球震颤,2例患儿出生体重过低。
Children (7) who had been exposed to sodium valproate (or valproic acid) in utero were evaluated. A consistent facial phenotype was observed in all 7 in addition to other birth defects in 4. The facial changes consisted of epicanthal folds which continued inferiorly and laterally to form a crease or groove just under the orbit, flat nasal bridge, small upturned nose, long upper lip with a relatively shallow philtrum, a thin upper vermillion border, and downturned angles of the mouth. Hypospadias, strabismus and psychomotor delay were found in 2 males; 2 children had nystagmus and 2 had low birth weight.