Abstract
Objectives: To correlate prenatal and postnatal findings of urorectal septum malformation sequence and to study spectrum of malformation.Methods: Nine cases were reviewed with features suggestive of urorectal septum malformation (URSM) sequence. Associated anomalies were studied. Sex of the fetus was assigned by karyotype when available or by examination of internal genitalia.Results: Out of nine cases 5 fetuses were male and 4 were female. Gestational age ranged from 14 to 34 weeks. Six cases were complete URSM sequence and 3 were partial URSM sequence. Associated anomalies of other systems were seen in 4 cases. In one case karyotype was 47, XXY.Conclusion: Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possiblity of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.
Similar content being viewed by others
References
Escobar LF, Weaver DD, Bixler D, Hodes ME, Mitchell M. urorectal septum malformation sequence: report of six cases and embryological analysis.Am J Dis Child 1987; 141: 1021–1024.
Blott M, Nicoladies KH, Gibb D, Greenough A, Moscoso G, Campbell S. Fetal breathing movements as predictor of favorable pregnancy outcome after oligohydromnios due to membrane rupture in second trimester.Lancet 1987; 2: 129–131.
Sahinoglu Z, Mulayim B, Ozden S, Etker S, Celayir A, Ozkan F Biligic R. The prenatal diagnosis of cloacal dysgenesis sequence in six cases: can the termination of pregnancy always be the first choice?.Prenat Diagn 2004; 24: 10–16.
Erickson RP, Stone JF, McNoe LA, Eccles MR. Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies.Clin Genet 1997; 51: 331–337.
Wheeler PG, Weaver DD. Partial urorectal septum malformation sequence: A report of 25 cases.Am J Med Genet 2001; 103: 99–105.
Pauli MR. Lower mesodermal defects: A common cause of fetal and early neonatal death.Am J Med Genet 1994; 50: 154–172.
Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF. Urorectal septum malformation sequence: report of thirteen additional cases and review of the literature.Am J Med Genet 1997; 73: 456–462.
Seaver LH, Grimes J, Erickson RP. Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y-specific DNA sequences as pathogenetic factors.Am J Med Genet 1994; 51: 16–21.
Martinez-Frias ML, Bermejo E, Garcia A, Galan E, Prieto L. Holoprosencephaly associated with caudal dysgenesis: A clinical-epidemiological analysis.Am J Med Genet 1994; 53: 46–51.
Wei X, Sulik KK. Pathogenesis of caudal dysgenesis/sirenomelia induced by Ochratoxin A in chick embryos.Teratology 1996; 53: 378–391.
Alles AJ, Sulik KK. A review of caudal dysgenesis and its pathogenesis as illustrated in an animal model.Brith defects Orig Artic Ser 1993; 29(1): 83–102.
Mills PL, Pergament E. Urorectal septal defects in a female and her offspring.Am J Med Genet 1997; 70: 250–252.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Patil, S.J., Phadke, S.R. Urorectal septum malformation sequence: Ultrasound correlation with fetal examination. Indian J Pediatr 73, 287–293 (2006). https://doi.org/10.1007/BF02825821
Issue Date:
DOI: https://doi.org/10.1007/BF02825821