Fetales Valproat-Syndrom
Prenatal
sonographic diagnosis of fetal valproate syndrome: a case report. Prenatal ultrasonographic image. a Contracture of the fetal right wrist joint is observed at 25 weeks of gestation. b Schematic image of the right wrist joint. c Saddle nose as a facial anomaly is observed on this three-dimensional ultrasound obtained at 37 weeks of gestation
Prenatal
sonographic diagnosis of fetal valproate syndrome: a case report. a The neonate’s physical examination reveal bend and contracture of right wrist joint. b A right radial ray defect is observed on this x-ray (arrow)
Fetal valproate syndrome (FVS) is a potential embryopathy that can occur as a result from maternal intake of valproic acid (sodium valproate) during pregnancy.
Clinical presentation
There is a wide clinical spectrum which includes
- neural tube defects
- intellectual disability
- craniofacial anomalies
- hypertelorism
- cleft lip + / - palate
- long flattened philthrum
- micrognathia
- microphthalmia
- microcephaly
- strabismus
- mid facial hypoplasia
- low set ears
- limb anomalies
- congenital cardiac anomalies
- thoracic
- genitourinary anomalies
- intrauterine growth restriction (IUGR)
Pathology
Many effects are thought to be due to impairment of folate metabolism
Siehe auch:
- Polydaktylie
- Hypertelorismus
- Herzfehler
- Tracheomalazie
- Mikrognathie
- Mikrozephalie
- Mikrophthalmus
- Lippen-Kiefer-Gaumen-Spalte
- Intrauterine Wachstumsretardierung
- Hypospadie
- Neuralrohrdefekt
- low set ears
- mid facial hypoplasia
- Valproate-induced hyperammonemic encephalopathy
- overlapping digits
- Mittelgesichtshypoplasie
- Valproat
- Radialstrahldefekte
und weiter:
Assoziationen und Differentialdiagnosen zu Fetales Valproat-Syndrom: