Fetal akinesia deformation sequence: behavioral development in a case of congenital myopathy

Ultrasound Obstet Gynecol. 2001 Sep;18(3):253-7. doi: 10.1046/j.1469-0705.2001.00422.x.


Objective: To monitor behavioral development in a fetus affected by the Pena-Shokeir phenotype due to fetal akinesia deformation sequence of myogenic origin.

Methods: Fetal behavioral development was studied sonographically in a fetus suspected of having fetal akinesia deformation sequence, between 15 and 35 weeks of gestation at 1-4-week intervals.

Results: Fetal body movements were quantitatively and qualitatively abnormal from 28 weeks onwards. Behavioral deterioration coincided with the observation of structural anomalies such as club feet. Fetal heart rate and its variation remained within normal limits and showed normal ultradian cyclicity, but the temporal linkage between body movements and heart rate pattern worsened with advancing gestation. Breathing movements, although present until the end of pregnancy, became increasingly shallow.

Conclusion: Our results provide sound evidence that the trajectory of behavioral development with fetal akinesia deformation sequence, which has been hypothesized to occur in man exclusively on the basis of retrospective analyses and animal experiments, does indeed take place.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics
  • Female
  • Fetal Movement*
  • Heart Rate, Fetal
  • Humans
  • Infant, Newborn
  • Male
  • Muscular Diseases / congenital*
  • Muscular Diseases / genetics
  • Pregnancy
  • Ultrasonography, Prenatal