Abstract
The patient is currently a 14-year-old female. A cloacal anomaly was suspected at an obstetrical ultrasound examination. The patient was delivered by cesarean section at 34 weeks of gestation. Complete situs inversus, spina bifida occulta, left renal agenesis, and enteric duplication had been diagnosed by various examinations. Furthermore, she had an unusual perineal canal, which manifested as hypoplasia of the left Müllerian duct and a Wolffian duct remnant. At age three, she underwent a radical surgery for cloacal anomaly as well as excision of the perineal canal. At age four, she developed congenital biliary dilatation associated with pancreaticobiliary maljunction. An extrahepatic bile duct resection and hepaticojejunostomy were performed. In addition, she was diagnosed as having left-sided conduction deafness with ossicular malformation at age 12. Multiple malformations in the present case can be classified as follows: (1) Diseases related to the Zic3 gene: situs inversus, vertebral dysplasia, and anorectal malformation; (2) MURCS association: Müllerian duct aplasia or hypoplasia, renal aplasia, cervicothoracic vertebral dysplasia, and conduction deafness; (3) Other diseases: enteric duplication and pancreaticobiliary maljunction. The present case had a very rare combination of multiple anomalies and further cases should be accumulated for genetic analysis to elucidate the pathogenesis of these combined anomalies.
