Persistent Notochord in a Fetus with COL2A1 Mutation
Joint Authors
Codsi, Elisabeth
Faksh, Arij
Volk, Amber K.
Borowski, Kristi S.
Brost, Brian
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-09-08
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Codsi, Elisabeth& Brost, Brian& Faksh, Arij& Volk, Amber K.& Borowski, Kristi S.. 2015. Persistent Notochord in a Fetus with COL2A1 Mutation. Case Reports in Obstetrics and Gynecology،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059220
Modern Language Association (MLA)
Codsi, Elisabeth…[et al.]. Persistent Notochord in a Fetus with COL2A1 Mutation. Case Reports in Obstetrics and Gynecology No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059220
American Medical Association (AMA)
Codsi, Elisabeth& Brost, Brian& Faksh, Arij& Volk, Amber K.& Borowski, Kristi S.. Persistent Notochord in a Fetus with COL2A1 Mutation. Case Reports in Obstetrics and Gynecology. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059220
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059220
