This paper discusses 2 baby girls who were diagnosed in infancy both with VACTERL and another rare syndrome called Mayer-Rokitansky-Kuster-Hauser syndrome where there the vagina and uterus (womb) have also not developed. This often (in non VACTERLs) presents in puberty, when girls don’t start having periods, or when they are trying for a baby without success so may be missed at birth.
Bjorsum-Meyer T, Herlin M, Qvist N, Petersen MB. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Kuster-Hauser syndrome in co-occurrence: two case reports and a review of the literature. J Med Case Reports. 2016;10(1):374
