Fetal akinesia deformation sequence: an animal model

Abstract

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.