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• W2131466100 abstract "Purpose The aim of the study was to clearly define the anomalies that compose the Currarino syndrome (CS). We highlight the frequency of associated malformations of the spinal cord and the possibility of a communication between the presacral tumor and the spinal canal, leading to neurological complications. Methods We studied 29 patients with CS, including 12 familial cases; histological examination of the presacral tumor was performed, and cytogenetic and molecular biology studies of the HLXB9 locus were carried out. Results All except 2 patients had a sacral malformation; 23 had an anorectal anomaly and 8 had isolated chronic intestinal pseudo-obstruction. There were 20 presacral tumors, one of which was malignant. There was a communication between the presacral tumor and the spinal canal in 12 cases, and tethering of the spinal cord in 17 cases. Twenty-five patients underwent surgery with a single-stage operation for 7, on both the intestinal and the presacral malformations, and, when required, the spinal cord anomalies. Twelve patients harbored a heterozygous point mutation of the coding sequence of HLXB9 gene. Conclusion By accurate evaluation of the 4 main features in the CS, the correct surgical management, including neurosurgery, can be performed in a 1-stage approach." @default.
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• W2131466100 date "2006-01-01" @default.
• W2131466100 modified "2023-10-18" @default.
• W2131466100 title "New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)" @default.
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• W2131466100 doi "https://doi.org/10.1016/j.jpedsurg.2005.10.053" @default.
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