Caudal Regression Syndrome and Sacral Agenesis

2014 ◽  
pp. 231-235
Author(s):  
Mohamed A. Baky Fahmy
Keyword(s):  
Caudal Regression Syndrome ◽  
Sacral Agenesis ◽  
Caudal Regression

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

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
F. Fontanella ◽  
M. C. van Maarle ◽  
P. Robles de Medina ◽  
R. J. Oostra ◽  
R. R. van Rijn ◽  
...  
Keyword(s):  
Ultrasound Examination ◽  
Geographical Area ◽  
Maternal Diabetes ◽  
Caudal Regression Syndrome ◽  
Developmental Abnormalities ◽  
Sacral Agenesis ◽  
Rare Congenital Disorder ◽  
Caudal Regression ◽  
Spinal Segments ◽  
Sporadic Cases

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.

scholarly journals P09.15: Caudal regression syndrome: a case report

2011 ◽  
Vol 38 (S1) ◽  
pp. 203-203 ◽  
Author(s):  
A. Soria ◽  
J. Iglesias ◽  
G. Villagomez Martinez ◽  
G. Castillo ◽  
J. Villarreal ◽  
...  
Keyword(s):  
Case Report ◽  
Caudal Regression Syndrome ◽  
Caudal Regression

Caudal Dysplasia (Caudal Regression Syndrome)

1970 ◽  
Vol 23 (3) ◽  
pp. 212-220 ◽  
Author(s):  
D. L. Price ◽  
E. C. Dooling ◽  
E. P. Richardson
Keyword(s):  
Caudal Regression Syndrome ◽  
Caudal Regression

scholarly journals Caudal regression syndrome and a pelvic kidney: case report

2020 ◽  
Vol 53 (4) ◽  
pp. 509-511
Author(s):  
Dany Hage ◽  
Joe Iwanaga ◽  
Aaron S. Dumont ◽  
R. Shane Tubbs
Keyword(s):  
Case Report ◽  
Pelvic Kidney ◽  
Caudal Regression Syndrome ◽  
Caudal Regression

HLXB9 homeobox gene and caudal regression syndrome

2006 ◽  
Vol 76 (3) ◽  
pp. 205-209 ◽  
Author(s):  
Elisa Merello ◽  
Patrizia De Marco ◽  
Samantha Mascelli ◽  
Alessandro Raso ◽  
Maria Grazia Calevo ◽  
...  
Keyword(s):  
Homeobox Gene ◽  
Caudal Regression Syndrome ◽  
Caudal Regression
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