title: Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene.
abstract: 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.
authors.affiliation: Department of Obstetrics, Gynaecology and Prenatal Diagnosis, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
authors.forename: F
authors.identifier: 0000-0001-7003-4984
authors.initials: F
authors.lastname: Fontanella
authors.affiliation: Department of Clinical Genetics, Academic Medical Center Amsterdam, Amsterdam, Netherlands.
authors.forename: M C
authors.initials: MC
authors.lastname: van Maarle
authors.affiliation: Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, Amsterdam, Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Robles de Medina
authors.affiliation: Department of Anatomy and Embryology, Academic Medical Center Amsterdam, Amsterdam, Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Oostra
authors.affiliation: Department of Radiology, Academic Medical Center Amsterdam, Amsterdam, Netherlands.
authors.forename: R R
authors.initials: RR
authors.lastname: van Rijn
authors.affiliation: Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, Amsterdam, Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Pajkrt
authors.affiliation: Department of Obstetrics, Gynaecology and Prenatal Diagnosis, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
authors.forename: C M
authors.initials: CM
authors.lastname: Bilardo