VERIFICATION OF THE FETAL VALPROATE SYNDROME PHENOTYPE
VERIFICATION OF THE FETAL VALPROATE SYNDROME PHENOTYPE
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DOI：
10.1002/ajmg.1320290123
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发表时间：
1988-01-01
期刊：
影响因子：
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通讯作者：
HANSON, JW
中科院分区：
文献类型：
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作者：
ARDINGER, HH;ATKIN, JF;HANSON, JW
我们评估了19名在宫内接触丙戊酸(VPA)的儿童，以寻找Di Liberti等人提出的胎儿丙戊酸盐综合征(FVS)的表现。[1984]。我们没有发现暴露在VPA单一疗法下的出生前或出生后生长发育的一致变化。然而，在接受VPA和其他抗惊厥药物联合使用的儿童中，有三分之二的人出现了出生后生长缺陷和小头畸形。在接受VPA单一治疗的患者中，71%的患者出现发育迟缓或神经异常，在接受VPA和其他抗惊厥药物的患者中，发现90%的患者出现发育迟缓或神经异常。在母亲使用VPA的婴儿中也发现了头面部异常，这些异常可以在其他抗惊厥药物暴露中看到，包括面中部发育不全、鼻梁宽阔和/或平坦、上丘皱褶、耳朵、人中或嘴唇的轻微异常以及小下颌。暴露于VPA的婴儿可见明显的斜视、眼脊和外眶脊线缺乏或双额部狭窄，以及某些重大异常，如气管软化、马蹄内翻足(脊柱完整)和腰骶部脑膜脊膜膨出。其他缺陷，如泌尿生殖系统异常，腹股沟或脐疝，以及与其他产前抗惊厥药物接触常见的轻微手指异常，也偶尔会在暴露于VPA的人中发现。在几乎所有类别的抗惊厥药物中都发现了婴儿的心脏缺陷，尽管根据致病机制进行分类时，与母亲使用VPA相关的缺陷的类型可能会得到澄清。我们的研究结果总体上与Di Liberti等人的报告一致。[1984]。
We have evaluated 19 children who were exposed to valproic acid (VPA) in utero to look for manifestations of fetal valproate syndrome (FVS), as proposed by Di Liberti et al. [1984]. We found no consistent alterations of pre- or postnatal growth with exposure to VPA monotherapy. Postnatal growth deficiency and microcephaly were present however, in two thirds of children exposed to VPA in combination with other anticonvulsants. Developmental delay or neurologic abnormally was found in 71% of those exposed to VPA monotherapy, and in 90% of those exposed to VPA and other anticonvulsants. Craniofacial anomalies, which can be seen with other anticonvulsant exposures, including midface hypoplasia, short nose with a broad and/or flat bridge, epicanthal folds, minor abnormalities of the ear, philtrum or lip, and micrognathia were also found in infants whose mothers used VPA. Prominent metopic, ridge and outer orbital ridge deficiency or bifrontal narrowing and certain major anomalies such as tracheomalacia, talipes equinovarus (with intact spine) and lumbrosacral meningomyelocele seem to be peculiar to infants with VPA exposure. Other defects such as urogenital anomalies, inguinal or umbilical hernias, and minor digital anomalies that are common to other prenatal anticonvulsant exposures are also occasionally found in those exposed to VPA. Heart defects have been found in infants exposed to nearly every class of anticonvulsant although the types of defect associated with maternal VPA use may be clarified when classified by pathogenetic mechanism. Our findings overall are in agreement with the report of Di Liberti et al. [1984].