Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane

Langer, Jacob C.; Brennan, Barbara; Lappalainen, Raymond E.; Caco, Christopher; Winthrop, Andrea; Hollenberg, Robert D.; Paes, Basco A.

doi:10.1016/0022-3468(92)90296-j

Cited by 57 publications

(37 citation statements)

References 15 publications

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“…Diagnosis of covered cloacal exstrophy can be made prenatally by sonographic signs of classic cloacal exstrophy such as a low-set umbilicus, an omphalocele, imperforate anus, diastasis of the pubic rami and a split vulva yet presence of bladder filling, an intact lower abdominal wall without any visceral extroversion and the missing characteristic ‘elephant trunk' deformity of the usually prolapsing terminal ileum [4]. Nevertheless, cloacal exstrophy with a cystic structure in the lower abdomen can be present if diagnosed in early pregnancy when the cloacal membrane has not ruptured yet [9,10]. Beside covered cloacal exstrophy and classic cloacal exstrophy, prenatal differential diagnosis should include the OEIS complex, both exstrophy and pseudoexstrophy of the bladder as well as patent urachus with allantois cyst.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Covered Cloacal Exstrophy

Mallmann¹,

Reutter²,

Müller³

et al. 2014

Fetal Diagn Ther

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The authors present the case of a prenatally diagnosed covered cloacal exstrophy in a female fetus and potential differential diagnoses within the exstrophy-epispadias complex. While on prenatal ultrasound, low-set umbilicus, omphalocele, diastasis of the pubic rami, split vulva and left-sided renal agenesis were suggestive of classic cloacal exstrophy, the presence of bladder filling and the missing characteristic elephant trunk appearance of the usually prolapsing terminal ileum suggested the diagnosis of covered cloacal exstrophy. Besides urogenital anomalies, the fetus presented with an additional small muscular ventricular septal defect. Postnatal presentation showed an omphalocele with a low-set umbilicus and a directly inferior positioned large everted (exstrophic) bladder plate with low positioned ureteric orifices. The external genitalia impressed with rudimentary vulvae and hemiclitorises. An imperforate anus was present, yet bowel movements were passed shortly after birth through a small vesicointestinal fistula positioned at the lower vesical trigone. We conclude that prenatal diagnosis of covered cloacal exstrophy can be made if bladder filling is present during prenatal ultrasound, although the bladder might become exstrophic during later gestation.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Covered Cloacal Exstrophy

Mallmann¹,

Reutter²,

Müller³

et al. 2014

Fetal Diagn Ther

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“…There is strong evidence for a genetic as well as environmental contribution to the etiology of the human EEC (Langer et al 1992;Robin et al 1996;Boyadjiev et al 2004;Reutter et al 2003). During the past few years, several genetic animal models for abdominal wall defects (Brewer and Williams 2004) and anorectal malformations (Kluth et al 1991;Mo et al 2001) have been presented.…”

Section: Introductionmentioning

confidence: 99%

The morphogenesis of the exstrophy-epispadias complex: a new concept based on observations made in early embryonic cases of cloacal exstrophy

Männer

Kluth

2005

Anat Embryol

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Besides the presence of an abnormal opening into the cloaca, all embryos were characterised by an abnormal broadening of the caudal trunk at the level of the leg buds, which, in the youngest embryos, was associated with the abnormal presence of large aneurysmatic swellings of the dorsal aortae at this side. We postulate that these aneurysmatic swellings might be the primary defects leading to the development of EEC malformations. These space-occupying anomalies seem to cause abnormal distensions of the developing pelvis and of the infra-umbilical portion of the developing body wall. In consequence, the mid-portion of the developing ventral body wall between the origin of the umbilical cord and the cloacal plate becomes stretched and thinned out. Tension and thinning of the ventral body wall might ultimately lead to its rupture with exposure of the lumen of the embryonic cloaca and allantois. This new concept on the morphogenesis of the EEC is the first not to be inferred from the conditions seen in fetal or postnatal human cases but is based entirely on data from malformed embryos.

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“…5,10 Ultimately it appears that, there is a defect in the gastrulation in the caudal part of embryo, caudal displacement of phallus, and defect in the urorectal septum all of which leads to extrophy of cloaca. 7,11,12 Lack of mesoderm in the infraumblical abdominal wall results in omphalocele.…”

Section: Chromosomal Associationmentioning

confidence: 99%

“…5 There is a single first of reported case of OEIS complex associate with chromosome 1p deletion. 7,8 OEIS complex is caused by recessive mutations of gene located in 1p36 region and deletion involved a mutation located in the exact homologue. 1,6,7 EMBRYOLOGICAL BASIS: There are different explanations given for the occurrence of extrophy of cloaca.…”

Section: Chromosomal Associationmentioning

confidence: 99%

Omphalocele, Extrophy of Cloaca, Imperforate Anus and Spine Abnormalities – Oeis Complex : A Rare Case Report

Jyothi¹,

Ramakrishna²,

Vandana³

2015

jemds

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OEIS complex is a rare defect with estimated incidence of 1 in 200,000 live births. These defects occur due to improper closure of ventral abdominal wall and constitute a spectrum ranging from simple epispadias to complex association of OEIS. Most cases are sporadic with no obvious etiology. A third gravida with previous normal obstetric history delivered a dead fetus at 18wks of gestation. The anomalies presented are grouped under OEIS complex.

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Cloacal exstrophy: Prenatal diagnosis before rupture of the cloacal membrane

Cited by 57 publications

References 15 publications

Prenatal Diagnosis of Covered Cloacal Exstrophy

Prenatal Diagnosis of Covered Cloacal Exstrophy

The morphogenesis of the exstrophy-epispadias complex: a new concept based on observations made in early embryonic cases of cloacal exstrophy

Omphalocele, Extrophy of Cloaca, Imperforate Anus and Spine Abnormalities – Oeis Complex : A Rare Case Report

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