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.

Authors:
Morten Herlin
Morten Herlin
Aalborg University Hospital
Aalborg | Denmark
Niels Qvist
Niels Qvist
Odense University Hospital
Denmark
Michael B Petersen
Michael B Petersen
Institute of Child Health
Greece

J Med Case Rep 2016 Dec 21;10(1):374. Epub 2016 Dec 21.

Department of Clinical Genetics, Aalborg University Hospital, Ladegårdsgade 5, Aalborg, 9000, Denmark.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13256-016-1127-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5178070PMC

Still can't find the full text of the article?

We can help you send a request to the authors directly.
December 2016
29 Reads

Publication Analysis

Top Keywords

atresia renal
28
anal atresia
28
renal defect
28
fistula/esophageal atresia
24
tracheoesophageal fistula/esophageal
24
defect association
24
limb defect
24
association mayer-rokitansky-küster-hauser
24
defect limb
24
defect tracheoesophageal
24
atresia cardiac
24
defect anal
24
defect
24
cardiac defect
24
vertebral defect
24
mayer-rokitansky-küster-hauser syndrome
16
atresia
13
white girl
8
case white
8
literature search
8

References

(Supplied by CrossRef)
Article in Orphanet J Rare Dis
BD Solomon et al.
Orphanet J Rare Dis 2011
Article in Psychosomatics
JG Heller-Boersma et al.
Psychosomatics 2009
Article in Am J Med Genet
LD Botto et al.
Am J Med Genet 1997
Article in Eur J Pediatr
A Czeizel et al.
Eur J Pediatr 1985
Article in Pediatrics
MJ Khoury et al.
Pediatrics 1983
Article in Mol Syndromol
H Reuter et al.
Mol Syndromol 2013
Article in Am J Med Genet
K Källén et al.
Am J Med Genet 2001
Article in Am J Med Genet
M Rittler et al.
Am J Med Genet 1996
Article in Am J Dis Child
DD Weaver et al.
Am J Dis Child 1986
Article in Am J Med Genet A
BD Solomon et al.
Am J Med Genet A 2010
Article in Am J Med Genet A
D Wattanasirichaigoon et al.
Am J Med Genet A 2003

Similar Publications