Cases reported "Abnormalities, Multiple"

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1/7. Ectopic ureter with urinary incontinence. An unusual presentation of Mayer-Rokitansky-Kuster-Hauser syndrome.

    Ectopic ureter occurs most commonly in association with ureterocele or duplication of the ureter. It is caused by a delay in or failure of separation of the ureteric bud from the mesonephric duct during embryologic development. Vaginal agenesis is the second most common cause of primary infertility in women after gonadal dysgenesis. Agenesis of the vagina in karyotypic females may be accompanied by other defects of the urogenital system [1]. We describe a rare combination of Mayer-Rokitansky-Kuster-Hauser syndrome and ectopic ureter with urinary incontinence.
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ranking = 1
keywords = ureterocele
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2/7. Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: evidence of locus on chromosome 13q.

    BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) and congenital anomalies of kidney and urinary tract (CAKUT) are major causes of renal dysfunction in children. Although a few patients with 13q deletion have been previously reported with renal anomalies, the association of SRNS with 13q has not been reported and critical regions associated with CAKUT have not been identified. We present the results of deletion mapping studies to identify the critical regions. methods: Cytogenetic and deletion mapping studies were performed on dna obtained from peripheral blood of two children with renal anomalies and interstitial deletion of 13q as well as their parents. Twenty eight microsatellite markers with a spacing of 1-8 Mb (1-3 cM) were utilized. RESULTS: The patients (both males, 5 and 10 years old) had varying severity of developmental delay and other neurologic disorders. The renal involvement included hydronephrosis, ureterocele, renal dysplasia, and mesangioproliferative SRNS. Our studies imply existence of at least two critical regions in the 13q area that are linked to CAKUT. The first is a 7 Mb region defined by markers D13S776 and D13S891 shared by both patients. The second is a much larger region extending at least 33 Mb above D13S776 seen in one patient with severe renal malformations and SRNS. CONCLUSION: We report an association of chromosome 13q with CAKUT as well as SRNS. Our studies suggest the presence of more than one gene in this region that is likely to be involved in renal development and function.
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ranking = 1
keywords = ureterocele
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3/7. Megacystis microcolon intestinal hypoperistalsis syndrome with bilateral duplicated systems.

    A 29-year-old multigravida woman presented for her second prenatal ultrasound evaluation at 30 weeks of gestation. The study showed a female fetus, bilateral duplicated systems with severe hydronephrosis in the upper pole moieties and a massively distended bladder. Initial interpretation suggested ectopic/obstructing bilateral ureteroceles. To evaluate these findings further, a prenatal magnetic resonance imaging scan was obtained, documenting the absence of ureteroceles. The presumptive diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome was made. After birth, contrast enema confirmed the presence of microcolon. This appears to be the first reported case of megacystis microcolon intestinal hypoperistalsis syndrome with bilateral duplex systems evaluated with prenatal magnetic resonance imaging.
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ranking = 2
keywords = ureterocele
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4/7. Intrinsic pathology of the lower moiety ureter in the duplex kidney with ectopic ureterocele.

    We report 2 cases of dilatation of the lower moiety ureter in a duplex kidney with ectopic ureterocele owing to intrinsic pathology at the ureterovesical junction. The relevant problems of this rare situation with double pathology are discussed.
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ranking = 5
keywords = ureterocele
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5/7. Uncrossed complete ureteral duplication with caudal orthotopic orifice and ureterocele.

    A case is reported of uncrossed complete left ureteral duplication with the orthotopic ureteral orifice opening caudal to the ectopic orifice. Whereas the caudal orthotopic orifice was associated with a ureterocele and megaloureter, the cranial orifice was associated with a small undilated ureter. The orthotopic kidney was hydronephrotic, and the ectopic kidney was small and non-functioning. The ureterocele was excised together with the megaloureter and the small ectopic kidney also was removed. The undilated ectopic ureter was transplanted to the orthotopic kidney by performing a ureteroneocystostomy distally and ureteropelvic anastomosis proximally.
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ranking = 6
keywords = ureterocele
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6/7. ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.

    We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome. This observation suggests that the Rapp-Hodgkin type of ectodermal dysplasia and EEC syndrome, both defined as autosomal dominant conditions with variable expression, may be manifestations of the same mutated gene. We also want to emphasize that urogenital anomaly is another hallmark of the EEC syndrome.
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ranking = 1
keywords = ureterocele
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7/7. Hypoplastic thymus and T-cell reduction in EECUT syndrome.

    We report on a patient with EEC/EECUT syndrome and concomitant hypoplasia of the thymus and reduction of T cells in secondary lymphatic organs. The patient was born prematurely at 35 weeks of gestational age and exhibited ectodermal dysplasia, ectrodactyly, cleft palate and urinary tract abnormalities. On the left side, a large ureterocele was present. On the right side, an atretic ureter was found. Both conditions had led to intrauterine hydronephrosis, renal dysplasia, oligohydramnios, pulmonary hypoplasia, and death of the child. Ureteral malformations are thought to be of epithelial origin. autopsy showed only small rudiments of thymic tissue containing single epithelial cells, but were completely devoid of Hassall corpuscules. Again, this clearly points to an ectodermal defect. Although there was severe reduction of T cells in secondary lymphatic organs, the thymic defect would not have necessarily led to immunological deficiency; perhaps this is the reason that an epithelial defect in the thymus of patients with EEC syndrome has not yet been reported. With regard to an updating of the diagnosis of the EEC/EECUT syndrome, an "EEC/EECUT plus" syndrome is suggested.
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ranking = 1
keywords = ureterocele
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