Vacterl Association with Mayer-Rokitansky-Kuster-Hauser Syndrome, Description of a Case

Abstract

Vacterl association is a complex dysfunction of congenital malformaciones that implies several structures. Is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. Etiology has only been identified in some patients due to sporadic nature and her high degree of clinical heterogeneity. We report a girl with VACTERL association, which co-occurrence with unusual anomalies of the branchial arch: Mayer-Rokitansky-Küster-Hause syndrome (MRKHS). Vaginal agenesis, is a clinical malformations due to severe dysfunctions in the development of Muller conduits in feminine patient, with absence of vagina and uterus, but with functionals ovaries. Therapeutic management is typically multidisciplinary and centers around surgical correction of specific congenital anomalies in the immediate postnatal period, followed by long-term follow-up for postoperative complications and sequelae of congenital malformations. If optimal surgical correction is achievable, the prognosis may be relatively positive, although some patients will remain affected throughout life. This presentation constitutes a new modality of presentation of polyformative syndromes that need of experience and medical investigation for patients with complex malformation to improve a quality of life.