Table 1 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 in the literature and two cases from our local center
Authors | VACTERL features | Uterovaginal malformation | Other anomalies | Karyotype | Surgical and neovaginal procedures | Bowel and/or urogenital symptoms at follow-up | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
V | A | C | T E | R | L | ||||||
Günsąr et al. [75] | X | X | X | UVag agenesis | Rib anomalies | 46,XX | PSARP + sigmoid loop vaginoplasty (one-stage operation) | 5-years old (none) | |||
King et al. [76] | X | X | X | X | UVagF agenesis | Rib anomaly | 46,XX | NS | Died at 3 months of age | ||
Komura et al. [77] | X | X | X | X | X | X | UVag agenesis | Left facial nerve palsy, left hearing impairment, seizures | NS | PSARP | 3 years (tracheostomy tube, mosapride for GERD, carbamazepine for seizures) |
Linke et al. [78] | X | X | X | X | UVagF agenesis | Right esophageal lung, duodenal atresia | 46,XX | None | Died at 4 weeks of age | ||
Rall et al. [30] | X | X | X | X | UVagO agenesis | Hearing impairment, right ear tag | 46,XX | PSARP, modified Vecchietti technique | 3 months after modified Vecchietti operation (no vaginal symptoms) | ||
Teo et al. [79] | X | X | X | X | X | UVagF agenesis | Bilateral vesico-ureteric reflux, overactive bladder | 46,XX | PSARP | NS | |
Wester et al. [80] | X | X | X | X | UVagF agenesis | None | NS | ASARP + sigmoid loop vaginoplasty (one-stage operation) | 18 months (laxatives) | ||
Bjørsum-Meyer et al. (this report) | X | X | X | X | X | UVagFO agenesis | None | 46,XX | PSARP, vaginal dilatations | 22 years (vaginal dilatations) | |
X | X | X | UVag agenesis | None | 46,XX | PSARP | 10 years (laxatives) | ||||