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 Report as inadecuate




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 - Download this document for free, or read online. Document in PDF available to download.

Journal of Medical Case Reports

, 10:374

First Online: 21 December 2016Received: 05 September 2016Accepted: 01 November 2016DOI: 10.1186-s13256-016-1127-9

Cite this article as: Bjørsum-Meyer, T., Herlin, M., Qvist, N. et al. J Med Case Reports 2016 10: 374. doi:10.1186-s13256-016-1127-9

Abstract

BackgroundThe 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 presentationOur 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.

ConclusionsThe 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.

KeywordsCongenital abnormalities Syndrome association VACTERL association Mullerian aplasia Rare diseases AbbreviationsAAAnal atresia

ACOGAmerican College of Obstetricians and Gynecologists

ASARPAnterior sagittal anorectoplasty

CFComponent feature

CNVCopy number variation

CTComputed tomography

DESDiethylstilbestrol

MRMagnetic resonance

MRKHMayer-Rokitansky-Küster-Hauser

MURCSMüllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia

OMIMOnline Mendelian Inheritance in Man

PSARPPosterior sagittal anorectoplasty

TEFTracheoesophageal fistula

USUltrasound

VACTERLVertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula-esophageal atresia, renal defect, and limb defect

Download fulltext PDF



Author: Thomas Bjørsum-Meyer - Morten Herlin - Niels Qvist - Michael B. Petersen

Source: https://link.springer.com/







Related documents