How to cite this article: El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ. 2010. OEIS complex associated with chromosome 1p36 deletion: A case report and review. Am J Med Genet Part A 152A:504–511.
OEIS complex associated with chromosome 1p36 deletion: A case report and review†
Article first published online: 25 JAN 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 2, pages 504–511, February 2010
How to Cite
El-Hattab, A. W., Skorupski, J. C., Hsieh, M. H., Breman, A. M., Patel, A., Cheung, S. W. and Craigen, W. J. (2010), OEIS complex associated with chromosome 1p36 deletion: A case report and review. Am. J. Med. Genet., 152A: 504–511. doi: 10.1002/ajmg.a.33226
- Issue published online: 25 JAN 2010
- Article first published online: 25 JAN 2010
- Manuscript Accepted: 15 NOV 2009
- Manuscript Received: 14 AUG 2009
- OEIS complex;
- cloaca exstrophy;
- chromosome 1p36 deletion
OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal anomalies. In addition, OEIS complex has been observed in association with environmental exposures, twinning, and in vitro fertilization. Monosomy 1p36 is the most common terminal deletion syndrome, with a prevalence of 1 in 5,000 newborns. It is characterized by specific facial features, developmental delay, and heart, skeletal, genitourinary, and neurological defects. We describe an infant with OEIS complex and 1p36 deletion who had features of both disorders, including omphalocele, cloacal exstrophy, imperforate anus, sacral multiple segmentation, renal malposition and malrotation, genital anomalies, diastasis of the symphysis pubis, microbrachycephaly, large anterior fontanel, cardiac septal defects, rib fusion, a limb deformity, developmental delay, and typical facial features. Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion. © 2010 Wiley-Liss, Inc.