TY - JOUR A2 - Monni, Giovanni AU - Fontanella, F. AU - van Maarle, M. C. AU - Robles de Medina, P. AU - Oostra, R. J. AU - van Rijn, R. R. AU - Pajkrt, E. AU - Bilardo, C. M. PY - 2016 DA - 2016/12/26 TI - Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene SP - 7625341 VL - 2016 AB - 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. SN - 2090-6684 UR - https://doi.org/10.1155/2016/7625341 DO - 10.1155/2016/7625341 JF - Case Reports in Obstetrics and Gynecology PB - Hindawi Publishing Corporation KW - ER -