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.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Surgery, Odense University Hospital, Sdr. Boulevard 29, Odense, C 5000, Denmark. thomas.bjoersum-meyer@rsyd.dk.|University of Southern Denmark, Campusvej 55, Odense, M 5230, Denmark. thomas.bjoersum-meyer@rsyd.dk.
authors.forename: Thomas
authors.initials: T
authors.lastname: Bjørsum-Meyer
authors.affiliation: Department of Clinical Genetics, Aalborg University Hospital, Ladegårdsgade 5, Aalborg, 9000, Denmark.
authors.forename: Morten
authors.initials: M
authors.lastname: Herlin
authors.affiliation: Department of Surgery, Odense University Hospital, Sdr. Boulevard 29, Odense, C 5000, Denmark.|University of Southern Denmark, Campusvej 55, Odense, M 5230, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Qvist
authors.affiliation: Department of Clinical Genetics, Aalborg University Hospital, Ladegårdsgade 5, Aalborg, 9000, Denmark.|Department of Clinical Medicine, Aalborg University, Sdr. Skovvej 15, Aalborg, 9000, Denmark.
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities*; D004933:Esophageal Atresia / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D009095:Mullerian Ducts / Q000002:abnormalities*; D019651:Plastic Surgery Procedures; D013131:Spine / Q000002:abnormalities*; D019738:Surgically-Created Structures; D014132:Trachea / Q000002:abnormalities; D014138:Tracheoesophageal Fistula / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D016896:Treatment Outcome; D014621:Vagina / Q000002:abnormalities* / Q000601:surgery
keywords: Congenital abnormalities; Mullerian aplasia; Rare diseases; Syndrome association; VACTERL association