1/39. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins.The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a consistent and recognizable pattern of midline abdominal and pelvic defects. It is rare, affecting 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestations. This is an autopsy study of OEIS complex in monozygotic twins after pregnancy termination at 20 weeks of gestation. Unremarkable family history but concordance of monozygotic twins for the defects may support the theory that early malformation complexes, e.g., OEIS, and monozygotic twinning are manifestations of the same disturbance of early blastogenesis.- - - - - - - - - - ranking = 1keywords = exstrophy (Clic here for more details about this article) |
2/39. Umbilical evagination of the bladder with omphalocele minor.A neonate with umbilical evagination of the bladder (UEB) and omphalocele minor (OM) is reported. The findings in this case support the origin of the urachus from the upper end of the cloaca rather than the allantois. The frequent occurrence of OM with urachal anomalies, including UEB, suggests an embryological association between the two conditions.- - - - - - - - - - ranking = 0.0012384088832396keywords = bladder (Clic here for more details about this article) |
3/39. Pseudoexstrophy of the bladder: a rare variant.A 15-day-old female presented with a healed omphalocele and a triangular musculoskeletal defect in the hypogastric area similar to the defect seen in classic bladder exstrophy. The bladder was normal on exploration. The defect was successfully closed using a bilateral anterior pubic ramotomy. Only ten cases of pseudoexstrophy have been reported in the world literature.- - - - - - - - - - ranking = 1.2736632346346keywords = exstrophy, bladder exstrophy, bladder (Clic here for more details about this article) |
4/39. biliary tract anomalies in thoraco-omphalopagus conjoined twins.Thoraco-omphalopagus conjoined twins were separated urgently on the ninth day of life because of bowel obstruction and impending intestinal perforation. Preoperative studies clarified the cardiac, intestinal, and hepatic parenchymal anomalies, but the precise biliary anatomy remained obscure. Operative cholangiogram through the single gallbladder visualized only the extrahepatic biliary anatomy in twin A. At reoperation for abdominal patch removal, exploration in twin A found biliary atresia. Because of the unusual duodenal anatomy and extreme short bowel, the authors elected to treat the biliary atresia in twin A with an appendix portoenterostomy. Twin B had no gallbladder and a profoundly hypoplastic biliary tree. Both twins have normal bilirubin and liver function at 18 months of age. The anatomic details of 8 additional cases of complex biliary tract anomalies in thoraco-omphalopagus conjoined twins are reviewed. In all cases, the complex biliary anatomy has been associated with conjoined duodenum. In most cases the preoperative technetium 99m HIDA scan has been inconclusive or misleading.- - - - - - - - - - ranking = 0.00049536355329583keywords = bladder (Clic here for more details about this article) |
5/39. prenatal diagnosis of double autosomal mosaicism (47,XX, 8/47,XX, 14): phenotype and molecular cytogenetic analysis on different tissues.A female fetus with multiple congenital anomalies was found to have double autosomal mosaicism, 47,XX, 8/ 47,XX, 14 on chromosome analysis via amniocentesis. At delivery, the proband displayed dysmorphic features of hypertelorism, micrognathia, low set ears, cleft palate, clubfeet, omphalocele, absent gallbladder and congenital heart defects. fluorescence in situ hybridization demonstrated a marked discrepancy in cell line populations in the tissues examined.- - - - - - - - - - ranking = 0.00024768177664792keywords = bladder (Clic here for more details about this article) |
6/39. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.BACKGROUND: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare sporadic condition. CASE: We identified an infant with major malformations resembling OEIS. He was the product of a 30-week triplet pregnancy conceived by in vitro fertilization (IVF) and evaluated by chorionic villi sampling (CVS). In this article, we review the possible pathogenetic mechanisms in this case, including IVF, multiple gestation, trauma to the uterus or uterine vessels following CVS, and placenta accreta. CONCLUSIONS: We conclude that the cumulative effects of all or some of these factors may have resulted in uteroplacental insufficiency adequate to produce this phenotype. This case provides additional evidence for the uterine vascular pathogenesis of OEIS complex in humans.- - - - - - - - - - ranking = 1keywords = exstrophy (Clic here for more details about this article) |
7/39. Cloacal exstrophy: prenatal diagnosis before rupture of the cloacal membrane.Embryologically, cloacal exstrophy is thought to result from persistence and subsequent rupture of the infraumbilical cloacal membrane during the fifth embryonic week. We report a case of cloacal exstrophy in which a prenatal diagnosis was made prior to rupture of the cloacal membrane. A routine ultrasound at 17 weeks' gestation demonstrated monoamniotic twins. One twin was normal, but the other was found to have a sacral myelomeningocele, "rocker-bottom" feet, splaying of the pubic rami, and a large cystic mass protruding from the infraumbilical anterior abdominal wall. A repeat ultrasound was performed at 22 weeks, with the same findings. At 26 weeks, further examination showed disappearance of the abdominal cyst, a small omphalocele, no demonstrable bladder, and the suggestion of prolapsed bowel inferior to the umbilical cord insertion. After delivery at 34 weeks, the abnormal twin was found to have the typical findings of cloacal exstrophy, myelomeningocele, bilateral lower limb anomalies, and extremely foreshortened small bowel. rupture of the presumed cloacal membrane after 22 weeks in this case is inconsistent with our current understanding of the embryology of this anomaly, and should stimulate a reexamination of the current concepts. If the characteristic features are recognized, cloacal exstrophy can be diagnosed by prenatal ultrasound, permitting prenatal counseling and appropriate perinatal management.- - - - - - - - - - ranking = 1.6002476817766keywords = exstrophy, bladder (Clic here for more details about this article) |
8/39. Combined pentalogy of cantrell with tetralogy of fallot, gallbladder agenesis, and polysplenia: a case report.A male newborn with pentalogy of cantrell, tetralogy of fallot, agenesis of the gallbladder, and polysplenia died at 3 days of age. Polysplenia was not previously reported in this association.- - - - - - - - - - ranking = 0.0012384088832396keywords = bladder (Clic here for more details about this article) |
9/39. Novel use of acellular dermal matrix in the formation of a bioprosthetic silo for giant omphalocele coverage.A case report is presented on the utilization of an acellular dermal matrix in the formation of a biologic silo conducive to early epithelial grafting in the treatment of a giant omphalocele associated with cloacal exstrophy.- - - - - - - - - - ranking = 0.2keywords = exstrophy (Clic here for more details about this article) |
10/39. Giant omphalocele and "prune belly" sequence as components of the beckwith-wiedemann syndrome.We report a case of severe beckwith-wiedemann syndrome (BWS) in a fetus at 16 weeks of gestation. This presentation, incompatible with life, included a giant omphalocele and absence of abdominal wall musculature with extremely dilated bladder, as in the "prune belly" sequence. Adrenal cytomegaly pointed to BWS. Molecular analysis confirmed the diagnosis of BWS and showed an isolated demethylation of the KCNQ1OT1 gene. This report demonstrates that lethal fetal abdominal wall defects associated with adrenal cytomegaly are linked to epigenetic change of the 11p15 imprinted region.- - - - - - - - - - ranking = 0.00024768177664792keywords = bladder (Clic here for more details about this article) |
| | Next -> |