fetal akinesia / hypokinesia sequence
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
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
- 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
Siehe auch:
- Leiomyofibrom Uterus
- Lungenhypoplasie
- Polyhydramnion
- Mikrognathie
- Oligohydramnion
- Arthrogryposis multiplex congenita
- Pena-Shokeir-Syndrom
- Anhydramnion
- uterine anomalies
- Zwillingsschwangerschaft
- Potter-Sequenz
- Glykogenspeicherkrankheit
- lethal multiple pterygium syndrome
- Fowler-Syndrom
- fetal akinesia
und weiter:
Assoziationen und Differentialdiagnosen zu fetal akinesia deformation sequence:
Arthrogryposis
multiplex congenita