Fetal akinesia deformation sequence: an animal model.
Fetal akinesia deformation sequence: an animal model.
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DOI：
10.1542/peds.72.6.857
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发表时间：
1983-12
期刊：
影响因子：
8
通讯作者：
A. C. Moessinger
中科院分区：
文献类型：
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作者：
A. C. Moessinger
从妊娠第18天至足月（第21天），每天经子宫注射箭毒使大鼠胎儿瘫痪。分娩时发现以下异常：多关节挛缩、肺发育不全、小颌畸形、胎儿生长迟缓、脐带短和羊水过多。假手术或未接触的同窝对照胎仔均未出现任何这些异常。用该动物模型获得的一组异常（或变形序列）被认为是箭毒的麻痹作用所致。这种表型与强直、面部异常和肺发育不全综合征（也称为佩纳和Shokeir I）有惊人的相似之处，推测是以常染色体隐性方式遗传的。这表明，这种表型是不是具体的，而是代表了一个变形序列，结果从胎儿制动或运动不能。对这组异常患者的诊断评估应包括确定潜在的病理过程（运动不能的病因），以便进行适当的分类和遗传咨询。
Rat fetuses were paralyzed by daily transuterine injections of curare from day 18 of gestation until term (day 21). The following anomalies were noted at the time of delivery: multiple joint contractures, pulmonary hypoplasia, micrognathia, fetal growth retardation, short umbilical cords, and polyhydramnios. Neither sham-operated nor untouched littermate control fetuses had any of these anomalies. The group of anomalies (or deformation sequence) obtained with this animal model is presumed to result from the paralytic effect of curare. This phenotype bears a striking resemblance to the syndrome of ankyloses, facial anomalies, and pulmonary hypoplasia (also known as Pena and Shokeir I), presumably inherited in an autosomal recessive manner. It is suggested that this phenotype is not specific but, rather, represents a deformation sequence which results from fetal immobilization or akinesia. Diagnostic evaluation of patients with this group of anomalies should include the identification of the underlying pathologic process (etiology of the akinesia) to allow for proper classification and genetic counseling.