What's already known about this topic?

  • Neuronal migration disorders are caused by many genetic conditions. Zellweger syndrome is a rare autosomal recessive cause. Prenatal diagnosis can be performed in further pregnancies.

What does this study add?

  • We show that early prenatal diagnosis can be reached by biochemical testing in pregnancies at risk for ZSS, even when no definite diagnosis has been established in a previous pregnancy. ZSS should be considered in fetus presenting with lissencephaly and other specific congenital anomalies.