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...

Descripción completa

Detalles Bibliográficos
Autores principales: Codsi, Elisabeth, Brost, Brian C., Faksh, Arij, Volk, Amber K., Borowski, Kristi S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578830/
https://www.ncbi.nlm.nih.gov/pubmed/26435866
http://dx.doi.org/10.1155/2015/935204
_version_ 1782391172252041216
author Codsi, Elisabeth
Brost, Brian C.
Faksh, Arij
Volk, Amber K.
Borowski, Kristi S.
author_facet Codsi, Elisabeth
Brost, Brian C.
Faksh, Arij
Volk, Amber K.
Borowski, Kristi S.
author_sort Codsi, Elisabeth
collection PubMed
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.
format Online
Article
Text
id pubmed-4578830
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-45788302015-10-04 Persistent Notochord in a Fetus with COL2A1 Mutation Codsi, Elisabeth Brost, Brian C. Faksh, Arij Volk, Amber K. Borowski, Kristi S. Case Rep Obstet Gynecol Case Report 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. Hindawi Publishing Corporation 2015 2015-09-08 /pmc/articles/PMC4578830/ /pubmed/26435866 http://dx.doi.org/10.1155/2015/935204 Text en Copyright © 2015 Elisabeth Codsi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Codsi, Elisabeth
Brost, Brian C.
Faksh, Arij
Volk, Amber K.
Borowski, Kristi S.
Persistent Notochord in a Fetus with COL2A1 Mutation
title 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_short Persistent Notochord in a Fetus with COL2A1 Mutation
title_sort persistent notochord in a fetus with col2a1 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578830/
https://www.ncbi.nlm.nih.gov/pubmed/26435866
http://dx.doi.org/10.1155/2015/935204
work_keys_str_mv AT codsielisabeth persistentnotochordinafetuswithcol2a1mutation
AT brostbrianc persistentnotochordinafetuswithcol2a1mutation
AT faksharij persistentnotochordinafetuswithcol2a1mutation
AT volkamberk persistentnotochordinafetuswithcol2a1mutation
AT borowskikristis persistentnotochordinafetuswithcol2a1mutation

Ejemplares similares