Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases

Mallmann, Michael R.; Reutter, Heiko; Müller, Annette; Geipel, A.; Berg, Christoph; Gembruch, Ulrich

doi:10.1159/000446108

Cited by 21 publications

(19 citation statements)

References 35 publications

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“…A vertebral malformation associated with renal malformations, tracheoesophageal fistula, cardiac malformations, and limb defects should raise concern with a VACTERL association [21] . OEIS (omphalocele-exstrophy-imperforate anusspinal defect) complex is a rare variant of the bladder exstrophy-epispadias complex that can include sacral anomaly, which can be prenatally diagnosed [22] . We observed that spinal cord anomalies were present in 14/19 cases of sacral malformations.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Morel

Friszer²,

Jouannic³

et al. 2017

Fetal Diagn Ther

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Introduction: Systematic analysis of the spine is recommended as part of the basic sonographic examination. The aim of our study is to assess the proportion of spinal cord anomalies diagnosed following detection of a sacral anomaly. Material and Methods: We analyzed retrospectively collected data in a prenatal tertiary center during a 9-year period. Patients were referred for second-line ultrasound in the context of diabetes mellitus or following detection of pelvic or lower spine anomalies. We included all cases of sacral anomalies with available postnatal or postmortem outcomes (imaging and/or pathologic data) and excluded all cases of open dysraphism (myelomeningocele). Results: Nineteen patients were included. The mean gestational age was 28 weeks (21-39). Sacral anomalies included 2 cases of complete agenesis, 12 cases of partial agenesis, 4 segmentation anomalies, and 1 case of abnormal angulation of the sacral spine. Fourteen associated spinal cord malformations included 8 tethered spinal cords, 5 truncated spinal cords, and 1 lipoma of the filum terminale. All anomalies were confirmed by postnatal or postmortem examinations. Conclusions: Sacral anomalies detected during basic sonographic examination represent an important warning sign for associated spinal cord anomalies, with possible poor neonatal outcome.

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Section: Discussionmentioning

confidence: 99%

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Morel

Friszer²,

Jouannic³

et al. 2017

Fetal Diagn Ther

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“…Cases of sacral agenesis with epispadias are rare and should prompt a search for other signs of the OEIS complex, which is a rare variant of the bladder exstrophy epispadias complex and which, in most cases, is of unknown etiology and in which spinal defects can include sacral anomalies …”

Section: Item 7: Systematic Analysis Of the Genitourinary Tractmentioning

confidence: 99%

“…5,23,60 Cases of sacral agenesis with epispadias are rare and should prompt a search for other signs of the OEIS complex, 2 which is a rare variant of the bladder exstrophy epispadias complex and which, in most cases, is of unknown etiology and in which spinal defects can include sacral anomalies. 66,67 In conclusion, parents should be informed of the risk of lower urinary tract dysfunction during childhood. Prenatal care and planning can be helpful for initiating an early urologic evaluation and limiting the risk of hydronephrosis or vesicoureteral reflux.…”

Section: Item 7: Systematic Analysis Of the Genitourinary Tractmentioning

confidence: 99%

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications

Mottet

Chaussy

Auber

et al. 2018

J of Ultrasound Medicine

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The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for cases associated with hydrocephalus secondary to open spinal dysraphism or chromosomal anomalies, association with mental deficiency is rare. We propose a systematic prenatal approach to cases of fetal sacral agenesis based on 9 etiologic items: clinical context, type of sacral dysgenesis, associated spinal cord malformations, mobility of lower limbs, investigation of the presacral region, analysis of the gastrointestinal tract, analysis of the genitourinary tract, associated vertebral defects, and cytogenetic analysis.

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“…In the prenatal setting, hydro(metro)colpos typically presents as a retrovesical, sometimes septate hypoechogenic mass with accumulation of debris within the cyst within the lower fetal abdomen. Differential diagnosis of intraabdominal cystic masses most often is difficult and includes hydronephrosis, fetal ovarian cysts, anterior cystic teratoma, cloacal malformation [1], megacystis with lower urinary tract obstruction [2], hepatic cysts [3], fetal sacrococcygeal teratoma [4], anterior meningocele, and hydro(metro)colpos.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases

Mallmann¹,

Reutter²,

Mack-Detlefsen

et al. 2018

Fetal Diagn Ther

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Background: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. Subjects and Methods: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000–2017). Results: The median diagnosis was made at 30⁺⁴ weeks of gestation, the earliest at 20⁺⁶ weeks, the latest at 37⁺² weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. Conclusion: Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.

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Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Complex: Associated Malformations in 12 New Cases

Cited by 21 publications

References 35 publications

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

Prenatal Sacral Anomalies Leading to the Detection of Associated Spinal Cord Malformations

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases

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