Urorectal septum malformation sequence: prenatal progression, clinical report, and embryology review

The urorectal septum malformation sequence (URSMS) is characterized by severe abnormalities of the urorectal septum (URS) and urogenital organs. The primary defect in this condition appears to be a deficiency in caudal mesoderm leading to the malformation of the URS and other structures in the pelvic region. Recent clinical reports discuss prental findings of URSMS [Lubusky et al. (2006); Prenatal Diagnosis 26: 345-349]. However, here we present a case of URSMS with prenatal findings not previously described, review the literature on URSMS, and summarize current embryological understanding of the pathology seen in hindgut development. The unique prenatal finding in the patient was an abdominally located cystic mass that was first seen at 18 weeks of gestation. Over the next 6 weeks, the mass decreased in size until it disappeared. Concurrent with reduction of the cyst, ascites developed. The patient displayed several traditional URSMS indicators including abnormal bladder and dysplastic kidneys. Our findings give additional insight into the embryology of urorectogenital development. Specifically, they suggest that the cystic mass may have been a persistent urachus prior to septation of the cloaca. Postnatal evaluation confirmed a URSMS diagnosis; the newborn had ambiguous genitalia, hypoplastic kidneys, absent uterus, imperforate anus, smooth perineum, and overall underdeveloped urogenital structures.