Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review How to cite this article: Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C. 2007. Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review. Am J Med Genet Part A 143A:2122–2128.

Show simple item record

dc.contributor.author Keppler-Noreuil, Kim en_US
dc.contributor.author Gorton, Sue en_US
dc.contributor.author Foo, Florence en_US
dc.contributor.author Yankowitz, Jerome en_US
dc.contributor.author Keegan, Catherine en_US
dc.date.accessioned 2007-09-20T19:14:34Z
dc.date.available 2008-10-01T18:44:41Z en_US
dc.date.issued 2007-09-15 en_US
dc.identifier.citation Keppler-Noreuil, Kim; Gorton, Sue; Foo, Florence; Yankowitz, Jerome; Keegan, Catherine (2007)."Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review How to cite this article: Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C. 2007. Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review. Am J Med Genet Part A 143A:2122–2128. ." American Journal of Medical Genetics Part A 143A(18): 2122-2128. <http://hdl.handle.net/2027.42/56170> en_US
dc.identifier.issn 1552-4825 en_US
dc.identifier.issn 1552-4833 en_US
dc.identifier.uri http://hdl.handle.net/2027.42/56170
dc.identifier.uri http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17702047&dopt=citation en_US
dc.description.abstract Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex or cloacal exstrophy (EC), describes a rare grouping of more commonly occurring component malformations [Carey et al., 1978 ]. The etiology is unknown, but likely heterogeneous. While postnatal identification of its associated gastrointestinal, spinal, and genitourinary systems delineates the extent and natural history of OEIS complex, prenatal findings may provide additional information regarding early detection, possible causative factors, and outcome. The purposes of this study were to: (1) present the prenatal ascertainment of OEIS complex in this series of 15 cases identified through several different sources compared to the literature, and (2) discuss the relationship of these prenatal findings to possible abnormal developmental mechanisms causing OEIS complex. These 15 cases indicate that OEIS complex may be difficult to diagnose prenatally, and that the full extent of abnormalities may not be clear until postnatal exam. Confusion with limb-body wall complex (two of our cases) and pentalogy of Cantrell (one of our cases) can occur. Anal/gastrointestinal malformations and genital ambiguity are under-ascertained. Conversely, prenatal defects may resolve postnatally, yet may provide clues for pathogenetic mechanisms. For instance, the finding of nuchal thickening in our three cases (one reported) suggests vascular/hemodynamic compromise early in embryologic development, or intrathoracic compression leading to jugular lymphatic obstruction may play a role. The association of twinning and OEIS complex suggests they may occur as early as blastogenesis. Our three sets of discordant twins also suggest a non-genetic etiology for OEIS complex of uteroplacental insufficiency. This study also indicates that OEIS complex may be more common than previously thought. © 2007 Wiley-Liss, Inc. en_US
dc.format.extent 97650 bytes
dc.format.extent 3118 bytes
dc.format.mimetype application/pdf
dc.format.mimetype text/plain
dc.publisher Wiley Subscription Services, Inc., A Wiley Company en_US
dc.subject.other Life and Medical Sciences en_US
dc.subject.other Genetics en_US
dc.title Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review How to cite this article: Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C. 2007. Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review. Am J Med Genet Part A 143A:2122–2128. en_US
dc.type Article en_US
dc.rights.robots IndexNoFollow en_US
dc.subject.hlbsecondlevel Genetics en_US
dc.subject.hlbtoplevel Health Sciences en_US
dc.description.peerreviewed Peer Reviewed en_US
dc.contributor.affiliationum Department of Pediatric Genetics, University of Michigan Medical Center, Michigan en_US
dc.contributor.affiliationother Division of Medical Genetics, Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa ; Division of Medical Genetics, Department of Pediatrics, University of Iowa Children's Hospital, 200 Hawkins Drive, 2616 JCP, Iowa City, IA 52242. en_US
dc.contributor.affiliationother Iowa Registry of Congenital & Inherited Disorders, University of Iowa, Iowa City, Iowa en_US
dc.contributor.affiliationother Iowa Registry of Congenital & Inherited Disorders, University of Iowa, Iowa City, Iowa en_US
dc.contributor.affiliationother Department of Obstetrics & Gynecology, Maternal-Fetal Medicine, University of Iowa Hospitals & Clinics, Iowa City, Iowa en_US
dc.identifier.pmid 17702047 en_US
dc.description.bitstreamurl http://deepblue.lib.umich.edu/bitstream/2027.42/56170/1/31897_ftp.pdf en_US
dc.identifier.doi http://dx.doi.org/10.1002/ajmg.a.31897 en_US
dc.identifier.source American Journal of Medical Genetics Part A en_US
dc.owningcollname Interdisciplinary and Peer-Reviewed
 Show simple item record

This item appears in the following Collection(s)


Search Deep Blue

Advanced Search

Browse by

My Account

Information

Available Now


MLibrary logo