Persistent Notochord in a Fetus with COL2A1 Mutation

الملخص EN

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation.

To our knowledge, this represents the first case of a persistent notochord associated with a COL2A1 mutation in humans.

In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.