EP11.01: Prenatal ultrasound‐based diagnosis of fetal OEIS complex associated with lower limb polymelia and cardiac, hepatic dysplasia

Abstract

Omphalocele exstrophy imperforate anus spinal defects (OEIS) complex is a type of congenital malformation syndrome involving multiple fetal systems. Its characteristic ultrasonographic features include omphalocele, spinal defects, absence of bladder, and ambiguous anus and genitalia, and it is often accompanied with limb malformations. Here, we report a case of fetal OEIS complex combined with lower limb polymelia and cardiac, hepatic dysplasia at the 24th gestational week diagnosed on prenatal ultrasonography. The ultrasonogram showed an omphalocele on the right side of the umbilical cord entry, spinal meningocele at the lumbosacral portion, bladder absence and ambiguous genitalia. Concurrent multiple malformations included lower extremity multi-limb deformity, feet abnormity, congenital ventricular septal defect, three-lobe liver malformation, ectopic kidneys, and single umbilical artery. Besides characteristic ultrasonographic features of OEIS complex, this case was combined with severe and rare lower limb polymelia and multi-lobe liver deformity. It was easily missed diagnosis when oligoamnios and the liver bulged. This case will strengthen our understanding of such rare deformities and provide reference information for early diagnosis of similar cases. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.