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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.

dc.contributor.authorKeppler-Noreuil, Kimen_US
dc.contributor.authorGorton, Sueen_US
dc.contributor.authorFoo, Florenceen_US
dc.contributor.authorYankowitz, Jeromeen_US
dc.contributor.authorKeegan, Catherine E.en_US
dc.date.accessioned2007-09-20T19:14:34Z
dc.date.available2008-10-01T18:44:41Zen_US
dc.date.issued2007-09-15en_US
dc.identifier.citationKeppler-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.issn1552-4825en_US
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/56170
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=17702047&dopt=citationen_US
dc.description.abstractOmphalocele-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.extent97650 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherGeneticsen_US
dc.titlePrenatal 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.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatric Genetics, University of Michigan Medical Center, Michiganen_US
dc.contributor.affiliationotherDivision 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.affiliationotherIowa Registry of Congenital & Inherited Disorders, University of Iowa, Iowa City, Iowaen_US
dc.contributor.affiliationotherIowa Registry of Congenital & Inherited Disorders, University of Iowa, Iowa City, Iowaen_US
dc.contributor.affiliationotherDepartment of Obstetrics & Gynecology, Maternal-Fetal Medicine, University of Iowa Hospitals & Clinics, Iowa City, Iowaen_US
dc.identifier.pmid17702047en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/56170/1/31897_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/ajmg.a.31897en_US
dc.identifier.sourceAmerican Journal of Medical Genetics Part Aen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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