Persistent Notochord in a Fetus with COL2A1 Mutation

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...

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Main Authors:	Elisabeth Codsi, Brian C. Brost, Arij Faksh, Amber K. Volk, Kristi S. Borowski
Format:	Article
Language:	English
Published:	Hindawi Limited 2015-01-01
Series:	Case Reports in Obstetrics and Gynecology
Online Access:	http://dx.doi.org/10.1155/2015/935204

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spelling	doaj-1fd4417725074a40a9b2f5b96b1091682020-11-24T21:20:20ZengHindawi LimitedCase Reports in Obstetrics and Gynecology2090-66842090-66922015-01-01201510.1155/2015/935204935204Persistent Notochord in a Fetus with COL2A1 MutationElisabeth Codsi0Brian C. Brost1Arij Faksh2Amber K. Volk3Kristi S. Borowski4Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USAWake Forest School of Medicine, 1 Medical Center Boulevard, Winston Salem, NC 2715, USAMayo Clinic, 200 First Street SW, Rochester, MN 55905, USANxGen MDx, 801 Broadway Avenue NW, Suite 203, Grand Rapids, MI 49504, USAMayo Clinic, 200 First Street SW, Rochester, MN 55905, USAMultiple 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.http://dx.doi.org/10.1155/2015/935204
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Elisabeth Codsi Brian C. Brost Arij Faksh Amber K. Volk Kristi S. Borowski
spellingShingle	Elisabeth Codsi Brian C. Brost Arij Faksh Amber K. Volk Kristi S. Borowski Persistent Notochord in a Fetus with COL2A1 Mutation Case Reports in Obstetrics and Gynecology
author_facet	Elisabeth Codsi Brian C. Brost Arij Faksh Amber K. Volk Kristi S. Borowski
author_sort	Elisabeth Codsi
title	Persistent Notochord in a Fetus with COL2A1 Mutation
title_short	Persistent Notochord in a Fetus with COL2A1 Mutation
title_full	Persistent Notochord in a Fetus with COL2A1 Mutation
title_fullStr	Persistent Notochord in a Fetus with COL2A1 Mutation
title_full_unstemmed	Persistent Notochord in a Fetus with COL2A1 Mutation
title_sort	persistent notochord in a fetus with col2a1 mutation
publisher	Hindawi Limited
series	Case Reports in Obstetrics and Gynecology
issn	2090-6684 2090-6692
publishDate	2015-01-01
description	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.
url	http://dx.doi.org/10.1155/2015/935204
work_keys_str_mv	AT elisabethcodsi persistentnotochordinafetuswithcol2a1mutation AT briancbrost persistentnotochordinafetuswithcol2a1mutation AT arijfaksh persistentnotochordinafetuswithcol2a1mutation AT amberkvolk persistentnotochordinafetuswithcol2a1mutation AT kristisborowski persistentnotochordinafetuswithcol2a1mutation
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Persistent Notochord in a Fetus with COL2A1 Mutation

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