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Volk, Amber K.

Mayo Clinic

NxGen MDx, 801 Broadway Avenue NW, Suite 203, Grand Rapids, MI 49504, USA

Citations 1

Persistent Notochord in a Fetus with COL2A1 Mutation
Codsi, Elisabeth , Brost, Brian , Faksh, Arij , Volk, Amber K., Borowski, Kristi, Borowski, Kristi S

Case Reports in Obstetrics and Gynecology | September 9, 2015 | Volume: 2015 | Issue: No issue available | Pages: 1-3

10.1155/2015/935204 Get It

Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with aCOL2A1mutation. To our knowledge, this represents the first case of a persistent notochord associated with aCOL2A1mutation in humans. In this case report, we describe ultrasound and postmortem findings and review the pathogenesis associated with a persistent notochord.