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Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detai...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220407/ https://www.ncbi.nlm.nih.gov/pubmed/28116192 http://dx.doi.org/10.1155/2016/7625341 |
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author | Fontanella, F. van Maarle, M. C. Robles de Medina, P. Oostra, R. J. van Rijn, R. R. Pajkrt, E. Bilardo, C. M. |
author_facet | Fontanella, F. van Maarle, M. C. Robles de Medina, P. Oostra, R. J. van Rijn, R. R. Pajkrt, E. Bilardo, C. M. |
author_sort | Fontanella, F. |
collection | PubMed |
description | Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene. |
format | Online Article Text |
id | pubmed-5220407 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-52204072017-01-23 Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene Fontanella, F. van Maarle, M. C. Robles de Medina, P. Oostra, R. J. van Rijn, R. R. Pajkrt, E. Bilardo, C. M. Case Rep Obstet Gynecol Case Report Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene. Hindawi Publishing Corporation 2016 2016-12-26 /pmc/articles/PMC5220407/ /pubmed/28116192 http://dx.doi.org/10.1155/2016/7625341 Text en Copyright © 2016 F. Fontanella et al. https://creativecommons.org/licenses/by/4.0/ 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 Fontanella, F. van Maarle, M. C. Robles de Medina, P. Oostra, R. J. van Rijn, R. R. Pajkrt, E. Bilardo, C. M. Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene |
title | Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene |
title_full | Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene |
title_fullStr | Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene |
title_full_unstemmed | Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene |
title_short | Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene |
title_sort | prenatal evidence of persistent notochord and absent sacrum caused by a mutation in the t (brachyury) gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220407/ https://www.ncbi.nlm.nih.gov/pubmed/28116192 http://dx.doi.org/10.1155/2016/7625341 |
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