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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...

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Autores principales: Fontanella, F., van Maarle, M. C., Robles de Medina, P., Oostra, R. J., van Rijn, R. R., Pajkrt, E., Bilardo, C. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
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.
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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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