Ectopia cloacae—A misnomer

Magnus, Ruth V.

doi:10.1016/0022-3468(69)90090-6

Cited by 9 publications

(2 citation statements)

References 3 publications

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“…Two recent studies both showed a frequency of 64% of infants with omphalocele [Keppler‐Noreuil, 2001; Martínez‐Frías et al, 2001]. This complex condition has been referred to by many names or acronyms over the last several decades [Soper and Kilger, 1964; Spencer, 1965; Magnus, 1969] with the most recent by Carey et al [1978] who proposed the term OEIS complex ( O mphalocele, bladder E xstrophy, I mperforate anus, and S pinal defects) to simplify the common components observed in infants with cloacal exstrophy. Other malformations reported to occur commonly with cloacal exstrophy include renal malformations [Keppler‐Noreuil, 2001; Martínez‐Frías et al, 2001], single umbilical artery [Hartwig et al, 1991; Martínez‐Frías et al, 2001; Bohring, 2002; Van der Putte et al, 2008], and limb defects [Evans and Chudley, 1999; Keppler‐Noreuil, 2001; Jain and Weaver, 2004], while esophageal atresia with tracheoesophageal fistula [Bohring, 2002], duodenal atresia [McHoney et al, 2001], and Chiari I malformation [Tubbs et al, 2003] occur occasionally.…”

Section: Introductionmentioning

confidence: 99%

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Feldkamp

Botto

Amar³

et al. 2011

American J of Med Genetics Pt C

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Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb-body wall, with trisomy 18, and in one pregnancy exposed to Dilantin and diazepam. Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge. The purpose of this study was to describe the prevalence, associated anomalies and maternal characteristics among infants born with cloacal exstrophy. We used data from the International Clearinghouse for Birth Defects Surveillance and Research submitted from 18 birth defect surveillance programs representing 24 countries. Cases were clinically evaluated locally and reviewed centrally by two authors. Cases of persistent cloaca were excluded. A total of 186 cases of cloacal exstrophy were identified. Overall prevalence was 1 in 131,579 births: ranging from 1 in 44,444 births in Wales to 1 in 269,464 births in South America. Live birth prevalence was 1 in 184,195 births. Prevalence ratios did not vary by maternal age. Forty-two (22.6%) cases met the criteria for the OEIS complex, whereas 60 (32.3%) were classified as OEI and 18 (9.7%) as EIS (one with suspected VATER (0.5%)). Other findings included two cases with trisomy 13 (one without a karyotype confirmation), one with mosaic trisomy 12 (0.5%), one with mosaic 45,X (0.5%) and one classified as having amnion band sequence (0.5%). Twenty-seven (14.5%) infants had other anomalies unrelated to cloacal exstrophy. Cloacal exstrophy is a rare anomaly with variability in prevalence by geographic location. The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele.

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Section: Introductionmentioning

confidence: 99%

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Feldkamp

Botto

Amar³

et al. 2011

American J of Med Genetics Pt C

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“…Many developmental patterns have been suggested, yet they usually involve the cloacal membrane and its defective evolution (Johnston 1913;Wyburn 1937;Patten and Barry 1952;Marshall and Muecke 1962;Mildenberger et al 1988). In addition, none of them accounts satisfactorily for all the clinical features encountered in affected children (Magnus 1969;Manzoni et al 1987;Lascombes et al 1989). In a previous anatomical study, we postulated that the bony defect might be an important clue to achieving a more comprehensive embryologic explanation (Beaudoin et al 1997).…”

Section: Introductionmentioning

confidence: 95%

Pelvic development in the rabbit embryo: implications in the organogenesis of bladder exstrophy

Beaudoın

Barbet

Bargy³

2004

Anat Embryol

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Current theses of the development of bladder exstrophy and its variants rely on defective evolution of the urinary tract and cloacal membrane. They do not account satisfactorily for the clinical features reported in children affected by exstrophy, especially the pelvic bone anomaly. We herein describe the normal development of the pelvic ring in the rabbit embryo and its chronological relationship with the lower urinary tract organogenesis. Our results suggest that these events are intricated and allow us to propose a novel mechanism to explain exstrophies.

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Prenatal diagnosis of exstrophy of the cloaca

Gosden

Brock

Opitz³

1981

Am. J. Med. Genet.

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While screening for neural tub defects, three cases of exstrophy of the cloaca were found through elevated second-trimester maternal serum alphafetoprotein levels. Measurement of amniotic fluid alphafetoprotein and examination of the structure of rapidly adhering cells confirmed the abnormalities, and the pregnancies were terminated. Subsequent studies of cholinesterase isozymes by acrylamide electrophoresis showed an abnormal acetylcholinesterase band in each of the three amniotic fluids. During the same period, two more cases of exstrophy of the cloaca were identified in spontaneous abortions and another one in a stillbirth. It is suggested that the condition is more common than has been previously suspected and is often misclassified as omphalocele.

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Ectopia cloacae—A misnomer

Cited by 9 publications

References 3 publications

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research

Pelvic development in the rabbit embryo: implications in the organogenesis of bladder exstrophy

Prenatal diagnosis of exstrophy of the cloaca

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