Anogenital malformation with ambiguous genitalia as part of the OEIS complex

Witters, Ingrid; Deprest, Jan; Hole, C. Van; Hanssens, Myriam; Devlieger, Hugo

doi:10.1002/uog.1776

Cited by 12 publications

(7 citation statements)

References 6 publications

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“…Girz et al [1998] and Wu et al [2004] suggested use of color Doppler to depict urine flow in direct communication with abdominal cavity to detect bladder exstrophy and to show the course of the periumbilical arteries. Hamada et al [1999] described an additional diagnostic ultrasound feature of “elephant trunk‐like” image representing prolapsed terminal ileum, however, in another reported case this prenatal finding was identified postnatally as part of the external ambiguous genitalia [Witters et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Keppler‐Noreuil

Gorton

Foo

et al. 2007

American J of Med Genetics Pt A

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Omphalocele-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.

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Section: Discussionmentioning

confidence: 99%

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Keppler‐Noreuil

Gorton

Foo

et al. 2007

American J of Med Genetics Pt A

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“…Thus, maternal serum AFP cannot be used to detect all cases of OEIS, and detailed fetal ultrasound examination remains the best tool with which to detect this condition prenatally. Nevertheless, there have been only a few reports of OEIS diagnosed prenatally based on fetal ultrasound prior to 24 weeks' gestation6–12.…”

Section: Introductionmentioning

confidence: 99%

OEIS complex: prenatal ultrasound and autopsy findings

Ben‐Neriah

Withers

Thomas

et al. 2007

Ultrasound in Obstet & Gyne

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“…An additional sonographic feature in the prenatal diagnosis of cloacal exstrophy, calling it 'the elephant trunk-like image', represents a prolapsed terminal ileum. 5 In our case, prenatal ultrasound was inconclusive. Surgical repair is always challenging due to the complexity of these malformations and requires that multidisciplinary teams include neonatologists, pediatric surgeons, pediatric urologists, pediatric orthopedists, pediatric neurosurgeons, and genetic and pediatric endocrinologists.…”

Section: Discussionmentioning

confidence: 59%

“…Failure of cloacal septation leads to the persistence of a cloaca, a rudimentary mid-gut, and an imperforate anus. 1,5 Antenatal ultrasound helps in diagnosing and preventing fetal death with appropriate management. Major criteria for the prenatal ultrasound diagnosis of cloacal exstrophy include non-visualization of the fetal bladder, infra-umbilical abdominal wall defect, omphalocele, myelomeningocele, and minor criteria include lower extremities malformations, renal anomalies, ascites, widened pubic arches, narrow thorax, hydrocephalus, single umbilical artery.…”

Section: Discussionmentioning

confidence: 99%

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report

et al. 2023

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Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformationcomplex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with theincidence of 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestation. The etiology ofthis complex is still unclear. Most cases are sporadic. Prenatal screening must be done for diagnosisand appropriate multidisciplinary management of cases. In severe cases, termination of pregnancy isconsidered. We present a 4-day first twin child with underdeveloped ambiguous genitalia deliveredvia emergency lower section cesarean section at 32+3 weeks of gestation with giant liver containingomphalocele, cloacal exstrophy, imperforate anus and meningocele with severe pulmonary arteryhypertension and non-visualization of right kidney and ureter, absence of uterus, fallopian tubes and right ovary. Separation and repair of the cecum and bladder were done. The ladd procedure was performed. Ileostomy was created and single-stage repair of the abdominal wall was done.

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Anogenital malformation with ambiguous genitalia as part of the OEIS complex

Cited by 12 publications

References 6 publications

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

OEIS complex: prenatal ultrasound and autopsy findings

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report

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