Single vaginal ectopic ureter and renal hypoplasia associated with urogenital sinus and abdominal muscular hypoplasia-a novel subtype of prune-belly syndrome in a female child?

摘要

We report a rare case that can be classified as prune-belly syndrome in a female. This patient came to our attention during the 19th week of gestation when massive ascites was found by ultrasound and the mother was transferred to our hospital. After birth, it was demonstrated that the infant had complicated anomalies, including abdominal muscular hypoplasia, urogenital sinus, a single, right-sided vaginal ectopic ureter, and hypoplasia of the right kidney. A sibling had a right hypoplastic kidney and right vesicoureteral reflux. Considering the combination of anomalies and the family history of urinary tract disease, her anomalies could be attributed to a genetic mutation.