pena Shokeir syndrome type I

fetal akinesia sequence (FAS) is an event that can occur with a lack of fetal movement (fetal akinesia). This results in

Epidemiology

The esimated prevalence is at ~ 1 in 3000 births.

Pathology

In utero fetal movement in considered essential for normal fetal growth. In FAS intra uterine immobility is thought to be triggered by a number of factors which include

  • central or peripheral neuropathic process(es)
    • congenital or secondary to in utero infective insult
  • congenital myopathies
    • glycogen storage diseases (particularly types IV and VII)
    • fetal aceytylcholine receptor subunit mutations
    • Nemaline myopathy
  • intra uterine exposure to immobilizing substances
  • connective tissue or cutaneous conditions (restrictive dermatopathy) limiting fetal movement
  • external movement limiting factors
Associations

See also

Siehe auch:
und weiter: