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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Bibliographic Details
Main Authors: F. Fontanella, M. C. van Maarle, P. Robles de Medina, R. J. Oostra, R. R. van Rijn, E. Pajkrt, C. M. Bilardo
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:Case Reports in Obstetrics and Gynecology
Online Access:http://dx.doi.org/10.1155/2016/7625341