S J Patil1, Shubha R Phadke. 1. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
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 possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.
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 possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.