The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.
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.
Vasudevan
Pradeep C
PC
Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK. pradeepcv@yahoo.com
Cohen
Marta C
MC
Whitby
Elspeth H
EH
Anumba
Dilly O C
DO
Quarrell
Oliver W J
OW
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D001006:Anus, Imperforate / Q000175:diagnosis* / Q000000981:diagnostic imaging; D001344:Autopsy; D001746:Bladder Exstrophy / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006554:Hernia, Umbilical / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008591:Meningomyelocele / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal