Persistent Notochord in a Fetus with COL2A1 Mutation

@inproceedings{Codsi2015PersistentNI,
  title={Persistent Notochord in a Fetus with COL2A1 Mutation},
  author={Elisabeth Codsi and Brian Charles Brost and Arij Faksh and Amber K. Volk and Kristi S. Borowski},
  booktitle={Case reports in obstetrics and gynecology},
  year={2015}
}
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. 

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