Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy?

Abstract

Exstrophy variants are very rare and have a better prognosis than classical exstrophy. The authors came across a case of superior vesical fissure (SVF) together with esophageal atresia and tracheoesophageal fistula (EATEF) and a case of SVF with gross limb anomalies. These associated malformations have not been reported so far in the literature and hence we reviewed all the cases of exstrophy variants presented to us with particular emphasis on the associated malformations. Records (n=9) of patients who were diagnosed as exstrophy variants at our institution between 1989 and 2000 were evaluated retrospectively. Out of 9 cases, 7 cases had associated malformations: EATEF, urethral atresia, absent radius, large umbilical hernia, low anorectal malformation, true diphallus with bifid scrotum, or high anorectal malformation. The high incidence of associated congenital malformations, noted in our exstrophy variant series, raises doubts about the clubbing together of the exstrophy variants with classical exstrophy. Further investigation of such cases may elucidate shared or unique causes of the dysembryogenic mechanisms in the etiologies of variants of bladder exstrophy.