Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene
Joint Authors
Pajkrt, E.
Fontanella, F.
van Maarle, M. C.
Robles de Medina, P.
Oostra, R. J.
van Rijn, R. R.
Bilardo, C. M.
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-12-26
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Fontanella, F.& van Maarle, M. C.& Robles de Medina, P.& Oostra, R. J.& van Rijn, R. R.& Pajkrt, E.…[et al.]. 2016. Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene. Case Reports in Obstetrics and Gynecology،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1101595
Modern Language Association (MLA)
Fontanella, F.…[et al.]. Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene. Case Reports in Obstetrics and Gynecology No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1101595
American Medical Association (AMA)
Fontanella, F.& van Maarle, M. C.& Robles de Medina, P.& Oostra, R. J.& van Rijn, R. R.& Pajkrt, E.…[et al.]. Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene. Case Reports in Obstetrics and Gynecology. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1101595
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1101595