Persistent Notochord in a Fetus with COL2A1 Mutation
Elisabeth Codsi1, Brian C Brost2, Arij Faksh1
1Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Abstract:
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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