pena Shokeir syndrome type I

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

• fetal joint contractures: arthrogryposis
• pulmonary hypoplasia
• polyhydramnios
• craniofacial anomalies
  • micrognathia

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
  • twin pregnancy
  • oligohydramnios / anhydramnios
  • uterine anomalies
  • large uterine fibroid

Associations

• Pena Shokeir syndrome: some publications consider this as synonymous with FAS (termed Pena Shokeir syndrome type I)
• lethal multiple pterygium syndrome: some publications also consider this an falling under the spectrum of FAS
• Fowler syndrome :

See also

• Potter sequence

Siehe auch:

• Leiomyofibrom Uterus
• Lungenhypoplasie
• Polyhydramnion
• Oligohydramnion
• Mikrognathie
• Arthrogryposis multiplex congenita
• Pena-Shokeir-Syndrom
• Anhydramnion
• uterine anomalies
• Zwillingsschwangerschaft
• Potter-Sequenz
• Glykogenspeicherkrankheit
• lethal multiple pterygium syndrome
• Fowler-Syndrom
• fetal akinesia

und weiter:

• obstetric curriculum
• short umbilical cord