The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

Abstract

We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex.

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

“…These 15 cases and 20 reports in the literature indicate that OEIS complex/EC may be difficult to diagnose prenatally, and that the full extent of abnormalities may not be clear until postnatal exam [Gosden and Brock, 1981; Meizner and Bar‐Ziv, 1985; Kutzner et al, 1988; Girz et al, 1998; Langer et al, 1992; Chen et al, 1997; Lee et al, 1999; Vasudevan et al, 2006]. Several authors have described major criteria for prenatal diagnosis of EC: non‐visualization of the fetal bladder, infra‐umbilical anterior abdominal wall defect, omphalocele, and MMC [Meizner and Bar‐Ziv, 1985; Austin et al, 1998; Noack et al, 2005].…”

OEIS complex: prenatal ultrasound and autopsy findings

“…The prenatal diagnosis of OEIS complex by ultrasound has been reported frequently7–9, 11, 12, 28–30, showing that fetal ultrasound can detect OEIS and distinguish it from other forms of abdominal wall defects. The differential diagnosis in prenatally diagnosed abdominal wall and neural tube defects, apart from OEIS, includes cloacal exstrophy sequence17, 31, limb–body wall complex32–34 and schisis association34, 35, although there is a significant clinical overlap between these conditions and they may represent a spectrum of developmental field defects, the etiology of which has not been defined.…”

Discordant Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects (Oeis) Complex and Cardiac Malformations in Monochorionic Twins

“…Most cases occur sporadically, although recurrence in sibs born years apart has been reported [2]. OEIS complex has been seen in one set of dizygotic twins and four sets of concordantly affected monozygotic twins [6,10]. Concordance for OEIS malformations is 10-20%, which means that most monozygotic twin cases are discordant [11].…”