Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures.

Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb-body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co-occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%-50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal.

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects (CDs). Clinical characteristics and risk factors often are studied for both defects combined, rather than exploring if these defects have different etiologies. We enumerated clinical features for 47 CE and 54 PC (inclusive of URSMS) cases from the National Birth Defects Prevention Study. Thirty-three CE cases were classified as isolated and 14 as multiple (presence of unassociated major defects); respective totals for PC cases were 26 and 28. We compared selected child and maternal characteristics between 11,829 non-malformed controls and CE and PC cases using chi-square or Fisher's exact tests. Compared to controls, CE and PC cases were statistically more likely (p < 0.05) to be preterm; CE cases were more likely to be multiple births. We conducted logistic regression analysis to estimate odds ratios and 95% confidence intervals for any CD, CE, and PC with selected self-reported maternal prepregnancy and periconceptional (one month prior to 3 months following conception) exposures. In crude and adjusted analyses, we observed significant positive associations for any CD, CE, and PC with use of any fertility medication or assisted reproductive technology procedure. Significant positive associations observed only in crude analyses were any CD with maternal obesity or use of progesterone, any CD and CE with any x-ray, and any CD and PC with use of folate antagonist medications. Our findings provide some of the first insights into potential differing etiologies for CE and PC.

Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins.

INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins. CONCLUSION: PC and OEIS complex may be related regarding their embryologic origins. The combination may represent the most severe manifestation of ventral body wall defects.

Is 1p36 deletion associated with anterior body wall defects?

Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and severe ends of the bladder exstrophy-epispadias complex (BEEC) spectrum. In 2009, El-Hattab et al. reported the first patient with OEIS complex associated with a chromosome 1p36 deletion. Here we report a second patient with 1p36 deletion who also has classic bladder exstrophy, supporting the possible role of genes in this region in the development of BEEC. The absence of omphalocele and imperforate anus in our patient places him toward classic bladder exstrophy while presence of spina bifida and the absence of coccyx suggest an overlap with OEIS complex. An additional differential diagnosis is the pentalogy of Cantrell in our patient as he also has a diaphragmatic hernia and an incomplete sternum. This is the second observation of a ventral midline birth defect in association with 1p36 deletion syndrome, following El-Hattab et al.'s report [2009]. The three genes (NOCL2, DVL1, and MMP23B) discussed as possible candidates are also among the deleted ones in our patient, supporting the possible role of these genes in BEEC spectrum. © 2016 Wiley Periodicals, Inc.

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.

OEIS complex-using MRI in diagnostic: Two case reports.

OEIS complex is an acronym for a specific, extremely rare, grouping of more commonly occurring congenital malformations consisting of an omphalocele (O), exstrophy of the cloaca (E), imperforate anus (I) and spinal defects (S). It is a midline defect occurring in early blastogenesis or in mesodermal migration. The incidence is not known, it has been estimated to be 1 in 200,000-400,000 pregnancies. The etiology is thought to be heterogeneous. Most cases occur sporadically but several reports show occurrence in siblings, concurrent occurrence in monozygotic twins, and more frequent occurrence in IVF pregnancies. We report two cases of OEIS complex. Case I was recognized postnatally in twin gestation. Case II, an IVF pregnancy, was diagnosed prenatally at 35 weeks gestation by ultrasound (US) and further confirmed by magnetic resonance imaging (MRI). The purpose of this report is to present two additional cases of this rare malformation, give further evidence of the OEIS complex occurring more commonly in multiple gestations (monozygotic twins) and IVF pregnancies and illustrate the importance of MRI in prenatal diagnostics in addition to US providing better prenatal counseling, perinatal care, and planning of reconstructive surgical management.

A rare presentation of OEIS variant with a recto-bladder neck fistula: A case report and literature review.

INTRODUCTION: Omphalocele, bladder extrophy, imperforate anus and spinal defect (known as OEIS) is a very rare congenital anomaly with an unknown etiology. In this report we describe a case of an OEIS variant associated with a wide pubic diastasis, bladder extrophy with a recto-bladder neck fistula and a high ano-rectal malformation. This work has been reported in line with the SCARE 2020 criteria. PRESENTATION OF THE CASE: A 30-year-old mother delivered a male baby at 39 weeks through a normal vaginal delivery. Examination revealed multiple congenital anomalies in the form of an Omphalocele, extrophied bladder, imperforate anus, ambiguous genitalia and a large pelvic diastasis. Fecal matter was noted at the most inferior point of the extrophied bladder, raising the suspicion of a recto- vesical fistula. An exploratory laparotomy showed a fistula between the rectum and the neck of the extrophied bladder. A sigmoid colostomy was carried out in addition to a mucous fistula. The fascial defect of the Omphalocele was approximated to the upper border of the extrophied bladder. At the age of 2 years, the baby underwent a bladder extrophy repair, a posterior sagittal anorectoplasty and bilateral osteotomies. DISCUSSION: OEIS complex has been reported to occur with a wide variety of associated anomalies, and this necessitates a thorough investigation in order to formulate an appropriate treatment plan. A prenatal diagnosis of OEIS complex can be made by ultrasound stressing the importance of antenatal follow up and a multidisciplinary approach in management. CONCLUSION: We described a rare variant of an OEIS complex and management of such anomalies requires a multidisciplinary input.

Ductus venosus reversed flow in omphalocele: Could it be a prognostic factor for long-term neurological impairment?

Omphalocele (exomphalos) represents one of the most frequent congenital abdominal wall defects. It presents as a defect of inconstant size and is located on the midline, at the base of the umbilical cord, the skin, fascia, and abdominal muscles being absent at this level. Omphaloceles are classified as liver-containing or non-liver-containing, the latter containing primarily bowel loops. We present the case of a 37-year-old pregnant woman with an early diagnosis of liver-containing omphalocele associating ductus venosus reversed flow, with the aim to highlight the importance of the first-trimester morphology scan and to develop a pilot study regarding the neurological development of infants after surgical repair of giant omphaloceles. The particularity of this case consists of a fetus with a positive diagnosis of a giant liver-containing omphalocele but with a small abdominal wall defect during the first-trimester morphology scan at 13 weeks and 3 days of gestation which associated ductus venosus reversed flow, presenting a normal karyotype postabortum. With a small defect, we can speculate the risk of strangling besides the mechanical traction exercised on the ductus venosus generating fetal distress, specifically fetal hypoxia at an early gestational age. In conclusion, the main issue, in this case, was if the fetal omphalocele and ductus venosus reversed flow indicated fetal hypoxia, what was the obstruction effect on the oxygenated blood pathway caused by the abdominal defect, and which were the long-term effects on infants with this complex pathology with an unknown outcome.

OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific associated risk factors uncertain. OBJECTIVES: This study aimed to determine the prevalence, clinical spectrum, possible early pregnancy exposures, and demographic characteristics as potentially associated risk factors in a sample of Mexican cases. METHODS: We conducted a multihospital based case-control study on 12 cases with the OEIS complex identified in 1,195,020 LB born from January 1978 to December 2015. All comparisons performed were matching 1:3 the relation of cases and controls, respectively, considering the p-value of ≤.05 as statistically significant. RESULTS: The prevalence of OEIS was 1.004/100,000 (1/99,585) LB. The frequency of bladder/cloacal exstrophy was 75 and 25%, respectively, omphalocele was 83.3%, and imperforate anus and spinal defects, 75.0% each. Two pairs of twins discordant for the defect exhibited the severest OEIS phenotype. Except for the higher frequency of maternal first pregnancy trimester influenza infection, early perinatal mortality and a twining trend association, none other variable differed significantly. DISCUSSION: The prevalence of OEIS in our sample is within the highest reported worldwide. First-trimester pregnancy maternal influenza infection and twining emerge as associated risk factors for OEIS. Although twin zygosity was not defined, the observed severest phenotypes in twins endorse the hypothesis that OEIS and monozygotic twinning are features of disturbances on early blastogenesis.

Prenatal ultrasound-based diagnosis of fetal OEIS complex associated with lower limb polymelia and cardiac, hepatic dysplasia: A case report.

OEIS complex is a type of congenital malformation syndrome. Here, we report a case of fetal OEIS complex combined with lower limb polymelia, cardiac defects, and hepatic dysplasia. It was easily misdiagnosed when oligoamnios and the liver bulged. This case will provide reference information for early diagnosis of similar cases.

Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in?

BACKGROUND/PURPOSE: The aims of surgical management in cloacal exstrophy (CE) have shifted to optimizing outcomes and quality of life while minimizing morbidity. This report reviews the single-institution experience of complications of bladder closure in CE. METHODS: Patients with CE were identified from a prospectively-maintained bladder exstrophy-epispadias complex database. Operative and follow-up data were analyzed to compare complications and failure rates of bladder closure between closures performed with and without osteotomy and primary versus reoperative closures. RESULTS: Of 134 patients followed with CE, 112 met inclusion criteria. Median follow-up time was 3.05years. The failure rate among 112 primary closures (mean age 8.4months) was 31.3% versus 51.9% in reoperative closures (mean age 19.7months) (p=0.044). Complication rate among primary and reoperative closures was 17.9% and 33.3%, respectively (p=0.076). For closures with pelvic osteotomy, failure rate was 24.0% versus 45.9% without osteotomy (p=0.018). Among primary closures with osteotomy, the complication rate was 21.3% versus 10.8% without osteotomy (p=0.171). CONCLUSIONS: Complications of bladder closure are common in CE. Pelvic osteotomy reduces failure rates without a significant rise in complications, which are often minor. There was no statistically significant difference in complication rates between reoperative and primary closures. However, reoperative closures were more likely to fail, emphasizing the importance of a successful primary closure. LEVEL OF EVIDENCE: II: retrospective study.

Diagnóstico prenatal del complejo onfalocele, extrofia cloacal, ano imperforado y defecto de la columna vertebral (complejo OEIS) / Prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex)

RESUMEN El complejo onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS) es una combinación de malformaciones congénitas severas y extremadamente raras. Su incidencia es estimada en 1 por cada 200.000 - 400.000 nacidos vivos. La aparición de los casos es esporádica y no tiene una etiología conocida. Algunos han sido asociados a exposiciones ambientales, causas genéticas y procedimientos de fertilización in vitro. El mecanismo de desarrollo parece asociado a alteraciones de la blastogénesis temprana o defecto de la migración mesodérmica durante el período embrionario. El diagnóstico prenatal puede realizarse a las 16 semanas de gestación, aunque en ocasiones es posible un diagnóstico más temprano. Su diagnóstico definitivo se realiza con los hallazgos de la necropsia. La mayoría de los recién nacidos supervivientes necesitan múltiples cirugías con complicaciones potenciales y no siempre se alcanza los resultados deseados. Se presenta un caso de diagnóstico prenatal de onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (complejo OEIS).

ABSTRACT Omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex) is a combination of severe and extremely rare congenital malformations. Its incidence is estimated at 1 per 200,000 - 400,000 live births. The occurrence of cases is sporadic and has no known etiology. Some have been associated with environmental exposures, genetic causes, and in vitro fertilization procedures. The mechanism of development appears to be associated with alterations in early blastogenesis or defect in mesodermal migration during the embryonic period. Prenatal diagnosis can be made at 16 weeks of gestation, although earlier diagnosis is sometimes possible. Definitive diagnosis is made necropsy findings. Most surviving newborns require multiple surgeries with potential complications and the desired results are not always achieved. A case of prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies (OEIS complex) is presented.

Fetal and neonatal presentation of OEIS complex.

OEIS complex is a rare entity comprising a combination of omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. We present a case that demonstrates the imaging features of OEIS complex, which also has the rare diagnosis of a terminal myelocystocele, across multiple imaging modalities both prenatally and postnatally. A prenatal diagnosis of OEIS complex allowed for appropriate planned multidisciplinary management of this patient.

Fetal abdominal wall defects.

The most common fetal abdominal wall defects are gastroschisis and omphalocele, both with a prevalence of about three in 10,000 births. Prenatal ultrasound has a high sensitivity for these abnormalities already at the time of the first-trimester nuchal scan. Major unrelated defects are associated with gastroschisis in about 10% of cases, whereas omphalocele is associated with chromosomal or genetic abnormalities in a much higher proportion of cases. Challenges in management of gastroschisis are related to the prevention of late intrauterine death, and the prediction and treatment of complex forms. With omphalocele, the main difficulty is the exclusion of associated conditions, not all diagnosed prenatally. An outline of the postnatal treatment of abdominal wall defects is given. Other rarer forms of abdominal wall defects are pentalogy of Cantrell, omphalocele, bladder exstrophy, imperforate anus, spina bifida complex, prune-belly syndrome, body stalk anomaly, and bladder and cloacal exstrophy; they deserve multidisciplinary counselling and management.