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

• Main Authors: F. Fontanella (Author), M. C. van Maarle (Author), P. Robles de Medina (Author), R. J. Oostra (Author), R. R. van Rijn (Author), E. Pajkrt (Author), C. M. Bilardo (Author)
• Format: Book
• Published: Hindawi Limited, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...