Persistent Notochord in a Fetus with COL2A1 Mutation
| Autor: | Elisabeth Codsi, Brian C. Brost, Arij Faksh, Amber K. Volk, Kristi S. Borowski |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Case Reports in Obstetrics and Gynecology, Vol 2015 (2015) |
| Druh dokumentu: | article |
| ISSN: | 2090-6684 2090-6692 |
| DOI: | 10.1155/2015/935204 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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