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• W2563385066 abstract "The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome is extremely rare. This group of patients has unusual phenotypic characteristics. The long-term outcome after treatment of defects is not well reported. A single unifying cause is not known and the etiology probably includes both genetic and non-genetic causes. We stress the importance of future studies to optimized treatment, follow-up, and etiology." @default.
• W2563385066 created "2017-01-06" @default.
• W2563385066 creator A5001726668 @default.
• W2563385066 creator A5015040471 @default.
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• W2563385066 date "2016-12-01" @default.
• W2563385066 modified "2023-10-17" @default.
• W2563385066 title "Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature" @default.
• W2563385066 cites W1482498530 @default.
• W2563385066 cites W1678409217 @default.
• W2563385066 cites W1838036188 @default.
• W2563385066 cites W1903689883 @default.
• W2563385066 cites W1913775935 @default.
• W2563385066 cites W1952781443 @default.
• W2563385066 cites W1963995625 @default.
• W2563385066 cites W1967327109 @default.
• W2563385066 cites W1969360167 @default.
• W2563385066 cites W1973463663 @default.
• W2563385066 cites W1973996687 @default.
• W2563385066 cites W1975173911 @default.
• W2563385066 cites W1976102451 @default.
• W2563385066 cites W1976480579 @default.
• W2563385066 cites W1976751554 @default.
• W2563385066 cites W1977502738 @default.
• W2563385066 cites W1977632514 @default.
• W2563385066 cites W1982089038 @default.
• W2563385066 cites W1983662292 @default.
• W2563385066 cites W1987001512 @default.
• W2563385066 cites W2001364108 @default.
• W2563385066 cites W2007784353 @default.
• W2563385066 cites W2010979988 @default.
• W2563385066 cites W2021494766 @default.
• W2563385066 cites W2022002465 @default.
• W2563385066 cites W2026805641 @default.
• W2563385066 cites W2029100595 @default.
• W2563385066 cites W2031839612 @default.
• W2563385066 cites W2037094446 @default.
• W2563385066 cites W2041369790 @default.
• W2563385066 cites W2043832156 @default.
• W2563385066 cites W2048143360 @default.
• W2563385066 cites W2050672414 @default.
• W2563385066 cites W2059045125 @default.
• W2563385066 cites W2062477704 @default.
• W2563385066 cites W2063016391 @default.
• W2563385066 cites W2064072805 @default.
• W2563385066 cites W2067792518 @default.
• W2563385066 cites W2071369698 @default.
• W2563385066 cites W2072694238 @default.
• W2563385066 cites W2075288292 @default.
• W2563385066 cites W2075347688 @default.
• W2563385066 cites W2078288169 @default.
• W2563385066 cites W2079398745 @default.
• W2563385066 cites W2081121258 @default.
• W2563385066 cites W2083174895 @default.
• W2563385066 cites W2083404536 @default.
• W2563385066 cites W2084580575 @default.
• W2563385066 cites W2090993394 @default.
• W2563385066 cites W2091907531 @default.
• W2563385066 cites W2092282228 @default.
• W2563385066 cites W2095235363 @default.
• W2563385066 cites W2096027915 @default.
• W2563385066 cites W2097914950 @default.
• W2563385066 cites W2100526574 @default.
• W2563385066 cites W2100792952 @default.
• W2563385066 cites W2105386866 @default.
• W2563385066 cites W2108016540 @default.
• W2563385066 cites W2118172532 @default.
• W2563385066 cites W2124161548 @default.
• W2563385066 cites W2132510879 @default.
• W2563385066 cites W2142903926 @default.
• W2563385066 cites W2152985924 @default.
• W2563385066 cites W2153194221 @default.
• W2563385066 cites W2158170943 @default.
• W2563385066 cites W2158766500 @default.
• W2563385066 cites W2160924009 @default.
• W2563385066 cites W2161985634 @default.
• W2563385066 cites W2169707232 @default.
• W2563385066 cites W2260895509 @default.
• W2563385066 cites W2414783328 @default.
• W2563385066 cites W2418627311 @default.
• W2563385066 cites W2419829930 @default.
• W2563385066 cites W2474267087 @default.
• W2563385066 cites W2515453911 @default.
• W2563385066 cites W4234946022 @default.
• W2563385066 cites W4250061787 @default.
• W2563385066 cites W808366332 @default.
• W2563385066 cites W1820179910 @default.
• W2563385066 doi "https://doi.org/10.1186/s13256-016-1127-9" @default.
• W2563385066 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5178070" @default.
• W2563385066 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28003020" @default.
• W2563385066 hasPublicationYear "2016" @default.
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