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Case Reports in Obstetrics and Gynecology
Volume 2016, Article ID 7625341, 5 pages
Case Report

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

1Department of Obstetrics, Gynaecology and Prenatal Diagnosis, University Medical Center Groningen, University of Groningen, Groningen, Netherlands
2Department of Clinical Genetics, Academic Medical Center Amsterdam, Amsterdam, Netherlands
3Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, Amsterdam, Netherlands
4Department of Anatomy and Embryology, Academic Medical Center Amsterdam, Amsterdam, Netherlands
5Department of Radiology, Academic Medical Center Amsterdam, Amsterdam, Netherlands

Received 20 October 2016; Accepted 1 December 2016

Academic Editor: Giovanni Monni

Copyright © 2016 F. Fontanella et al. 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.


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.