Cloacal exstrophy in a fetal autopsy case

Abstract

Background Cloacal exstrophy is synonymous with OEIS complex (omphalocele, exstrophy of the bladder, imperforate anus and spinal defects). This heterogeneous complex is regarded as a spectrum disorder, comprising a combination of the four defects ranging from minor, to significant and potentially fatal abnormalities. It is a rare condition, which occurs in 1/200 000–400 000 pregnancies. Most cases are sporadic and an unbalanced chromosomal translocation del(3)(q12.2q13.2) has been associated with a number of cases. Case history We present the case of a 19-year-old female who had a termination of pregnancy at 25/40 for fetal cloacal exstrophy. External examination revealed multiple abnormalities including an omphalocele which contained large intestine, bladder exstrophy with no urethral opening, a low set umbilicus, pubic diastasis, two genital tubercles lateral to the bladder and an imperforate anus. Internal examination showed left sided renal agenesis and a blind ending hindgut proximally, with the distal end open terminating in the omphalocele. No spinal defect or facial dysmorphism was observed. Conclusion OEIS complex is rare but can be a devastating condition. There is a wide spectrum of anomalies ranging from minor defects which require minimal surgery, to larger defects which are usually fatal.