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OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases.

著者 Keppler-Noreuil KM
Am J Med Genet.2001 Apr 1 ; 99(4):271-9.
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Department of Pediatrics, Division of Medical Genetics, University of Iowa Hospitals & Clinics, Iowa City, Iowa 52232, USA. kim-keppler@uiowa.edu

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OEIS complex refers to a combination of defects consisting of omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. Possible embryologic mechanisms proposed for these findings have included: a single defect of early blastogenesis or a defect of mesodermal migration during the primitive streak period. Fourteen cases with OEIS complex and related malformations were reviewed for demographic features, prenatal and family histories, and clinical, radiological and pathological findings including the frequency and types of associated anomalies. The pathogenetic mechanisms causing OEIS complex and related malformations, such as anorectal and spinal defects, are discussed. The findings in these cases illustrate the spectrum of defects that can occur in the embryologic development of the cloaca and the urorectal septum. Differences in the timing and extent of mesenchymal ingrowth as well as cloacal membrane rupture may account for these variable findings. A developmental field defect involving the intraembryonic mesoderm suggests a possible etiologic role for homeobox genes, such as HLXB9 with mutations, resulting in anorectal and spine abnormalities, or retinoic acid receptors. OEIS complex with its mostly sporadic occurrence suggests etiologic heterogeneity with a possible role for environmental and genetic causes.
PMID: 11251992 [PubMed - indexed for MEDLINE]
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