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

被引：12
作者：
Bjørsum-Meyer T. [1 ,2 ]
Herlin M. [3 ]
Qvist N. [1 ,2 ]
Petersen M.B. [3 ,4 ]
机构：
[1] Department of Surgery, Odense University Hospital, Sdr. Boulevard 29, Odense
[2] University of Southern Denmark, Campusvej 55, Odense
[3] Department of Clinical Genetics, Aalborg University Hospital, Ladegårdsgade 5, Aalborg
[4] Department of Clinical Medicine, Aalborg University, Sdr. Skovvej 15, Aalborg
来源：
Journal of Medical Case Reports | / 10卷 / 1期
关键词：
Congenital abnormalities; Mullerian aplasia; Rare diseases; Syndrome association; VACTERL association;
D O I：
10.1186/s13256-016-1127-9
中图分类号：
学科分类号：
摘要：
Background: 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. Case presentation: 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. Conclusions: 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. © 2016 The Author(s).
引用
收藏
页码：1 / 10
页数：9
相关论文
共 80 条
[1]  
Solomon B.D., VACTERL/VATER association, Orphanet J Rare Dis, (2011)
[2]  
Heller-Boersma J.G., Schmidt U.H., Edmonds D.K., Psychological distress in women with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome, MRKH), Psychosomatics, 50, 3, pp. 277-281, (2009)
[3]  
Botto L.D., Khoury M.J., Mastroiacovo P., Castilla E.E., Moore C.A., Skjaerven R., Et al., The spectrum of congenital anomalies of the VATER association: an international study, Am J Med Genet, 71, 1, pp. 8-15, (1997)
[4]  
Czeizel A., Ludanyi I., An aetiological study of the VACTERL-association, Eur J Pediatr, 144, 4, pp. 331-337, (1985)
[5]  
Khoury M.J., Cordero J.F., Greenberg F., James L.M., Erickson J.D., A population study of the VACTERL association: evidence for its etiologic heterogeneity, Pediatrics, 71, 5, pp. 815-820, (1983)
[6]  
Reuter H., Ludwig M., VATER/VACTERL association: Evidence for the role of genetic factors, Mol Syndromol, 4, pp. 16-19, (2013)
[7]  
Kallen K., Mastroiacovo P., Castilla E.E., Robert E., Kallen B., VATER non-random association of congenital malformations: study based on data from four malformation registers, Am J Med Genet, 101, 1, pp. 26-32, (2001)
[8]  
Rittler M., Paz J.E., Castilla E.E., VACTERL association, epidemiologic definition and delineation, Am J Med Genet, 63, 4, pp. 529-536, (1996)
[9]  
Weaver D.D., Mapstone C.L., Yu P.L., The VATER association. Analysis of 46 patients, Am J Dis Child, 140, 3, pp. 225-229, (1986)
[10]  
Solomon B.D., Pineda-Alvarez D.E., Raam M.S., Bous S.M., Keaton A.A., Velez J.I., Et al., Analysis of component findings in 79 patients diagnosed with VACTERL association, Am J Med Genet A, 152A, 9, pp. 2236-2244, (2010)
12345678