title: Persistent Notochord in a Fetus with COL2A1 Mutation.
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.
authors.affiliation: Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Codsi
authors.affiliation: Wake Forest School of Medicine, 1 Medical Center Boulevard, Winston Salem, NC 2715, USA.
authors.forename: Brian C
authors.initials: BC
authors.lastname: Brost
authors.affiliation: Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Arij
authors.initials: A
authors.lastname: Faksh
authors.affiliation: NxGen MDx, 801 Broadway Avenue NW, Suite 203, Grand Rapids, MI 49504, USA.
authors.forename: Amber K
authors.initials: AK
authors.lastname: Volk
authors.affiliation: Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Kristi S
authors.initials: KS
authors.lastname: Borowski