Affiliations: Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India | Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India
Note: [] Corresponding author: Katta M. Girisha, Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, Udupi, Karnataka, India. E-mail: [email protected].
Abstract: Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content. This report adds to the variety of the causes of umbilical cyst and the spectrum of consequences of urorectal septal defect.