Persistent Notochord in a Fetus with COL2A1 Mutation

• Main Authors: Elisabeth Codsi (Author), Brian C. Brost (Author), Arij Faksh (Author), Amber K. Volk (Author), Kristi S. Borowski (Author)
• Formato: Livro
• Publicado em: Hindawi Limited, 2015-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...