Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect

Citation
Ml. Martinez-frias et al., Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect, AM J MED G, 99(4), 2001, pp. 261-269
Citations number
67
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
0148-7299 → ACNP
Volume
99
Issue
4
Year of publication
2001
Pages
261 - 269
Database
ISI
SICI code
0148-7299(20010401)99:4<261:EOTCAE>2.0.ZU;2-O
Abstract
Exstrophy of the bladder (EB) and exstrophy of the cloaca (EC) are generall y recognizable as distinct clinical entities. In patients with EB, the post erior bladder wall is exposed through a midline defect of the abdomen, The umbilicus is inferiorly displaced and located close to the superior margin of the exstrophic bladder. Genital abnormalities are common in boys and gir ls who may present epispadias and a small, split phallus or a split clitori s, a bifid uterus, and a duplicate or exstrophic vagina. In contrast to cla ssic EB, EC is commonly associated with omphalocele, spinal defects, and in completely formed external genitalia and is always associated with imperfor ate anus. Some authors state that EC and EB constitute two distinct disorde rs, but others consider them part of a "continuum," representing different levels of severity within the same spectrum. The use of the acronym OEIS to refer to the combination of omphalocele, exstrophy, imperforate anus, and spinal defects, in our opinion, has not helped to clarify the clinical defi nition, pathogenesis, or cause of this multiple congenital anomaly (MCA) pa ttern, mostly because the term makes no distinction between EC or EB, Here we present the epidemiological analysis of a group of characteristics in in fants with EC and infants with EB to determine if they constitute two diffe rent entities. We also analyze if the different combinations of omphalocele , imperforate anus, and spinal defects are more frequent in infants with EC than in infants with MCA patterns other than EC and EB. The prevalence in our data for EC was 1:200,233 live births and 1:35,597 for EB. The clinical analysis indicated that the study defects (omphalocele, spine defects, spi na bifida, and imperforate anus) tend to occur together in the same child w ith a higher frequency if the child has the EC defect than in infants with MCA patterns that did not include EC or EB, Our findings of low birth weigh t, twinning, single umbilical artery, and preferentially associated malform ations suggest that EC is the result of damage occurring very early in deve lopment and that EC and EB are two different expressions of a primary polyt opic developmental field defect. (C) 2001 Wiley-Liss, Inc.