Omphalocele-exstrophy-imperforate Anus-spinal Defects Research Articles

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations. Here, I hypothesize NAD+ deficiency as a pleiotropic mechanism for multiple malformation conditions, including limb‐body wall complex (LBWC), pentalogy of Cantrell (POC), omphalocele‐exstrophy‐imperforate anus‐spinal defects (OEIS) complex, vertebral‐anal‐cardiac‐tracheoesophageal fistula‐renal‐limb (VACTERL) association (hereafter VACTERL), oculoauriculovertebral spectrum (OAVS), Mullerian duct aplasia‐renal anomalies‐cervicothoracic somite dysplasia (MURCS), sirenomelia, and urorectal septum malformation (URSM) sequence, along with miscarriages and other forms of congenital malformation. The term Congenital NAD Deficiency Disorder (CNDD) could be considered for patients with these malformations; however, it is important to emphasize there have been no confirmatory experimental studies in humans to prove this hypothesis. In addition, these multiple malformation conditions should not be considered individual entities for the following reasons: First, there is no uniform consensus of clinical diagnostic criteria and all of them fail to capture cases with partial expression of the phenotype. Second, reports of individuals consistently show overlapping features with other reported conditions in this group. Finally, what is currently defined as VACTERL is what I would refer to as a default label when more striking features such as body wall defects, caudal dysgenesis, or cloacal exstrophy are not present.

Safety of delayed surgical repair of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in infants with significant comorbidities.

Management of infants with OEIS complex is challenging and not standardized. Expeditious surgery after birth has been recommended to limit soilage of the urinary tract and optimize intestinal function. However, clinical instability secondary to comorbidities is common in this population and early operation carries risk. We sought to define the risk/benefit profile of delaying repair. All newborn patients with OEIS managed by our institution between Sep 2017 and Oct 2019 were reviewed. Comorbidities were evaluated, including cardiopulmonary pathologies and associated malformations. Ten patients with OEIS were managed. Patients underwent early (2 patients, repair at 0-2days) or delayed (6 patients, repair at 6-87days) first-stage exstrophy repair. Two patients died prior to repair (progressive respiratory failure, severe genetic anomalies). Repairs were delayed secondary to cardiac conditions, neurosurgical interventions, medical disease, and/or delayed transfer. Delayed repair patients had longer lengths of stay and use of parenteral nutrition. No patients experienced urinary tract infections prior to repair. Delaying first-stage exstrophy repair to allow physiologic optimization is safe. All repaired patients were discharged home, without parenteral nutrition or supplemental oxygen.

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins: a case report and literature review

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex represents severe midline abdominal and pelvic defects of unknown etiology. This complex is rare, affecting 1 in 200,000 to 400,000 pregnancies and is extremely rare in twin or triplet gestations. Here, we report the OEIS complex in a spontaneous monozygotic twin pregnancy and previously reported OEIS complex in twin or triplet pregnancy are reviewed. Spontaneous pregnancy and unremarkable family history, but concordance of monozygotic twins for the defect may support the theory that early malformation complexes, e.g., OEIS, may be related to errors in monozygotic splitting in early blastogenesis.

EP11.01: Prenatal ultrasound‐based diagnosis of fetal OEIS complex associated with lower limb polymelia and cardiac, hepatic dysplasia

Omphalocele exstrophy imperforate anus spinal defects (OEIS) complex is a type of congenital malformation syndrome involving multiple fetal systems. Its characteristic ultrasonographic features include omphalocele, spinal defects, absence of bladder, and ambiguous anus and genitalia, and it is often accompanied with limb malformations. Here, we report a case of fetal OEIS complex combined with lower limb polymelia and cardiac, hepatic dysplasia at the 24th gestational week diagnosed on prenatal ultrasonography. The ultrasonogram showed an omphalocele on the right side of the umbilical cord entry, spinal meningocele at the lumbosacral portion, bladder absence and ambiguous genitalia. Concurrent multiple malformations included lower extremity multi-limb deformity, feet abnormity, congenital ventricular septal defect, three-lobe liver malformation, ectopic kidneys, and single umbilical artery. Besides characteristic ultrasonographic features of OEIS complex, this case was combined with severe and rare lower limb polymelia and multi-lobe liver deformity. It was easily missed diagnosis when oligoamnios and the liver bulged. This case will strengthen our understanding of such rare deformities and provide reference information for early diagnosis of similar cases. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Management of pregnancy in patients with exstrophy-epispadias sequence: a case series and literature review

Exstrophy-epispadias sequence is an uncommon diagnosis in which surgical reconstruction has increased quality of life for these patients. As they are entering the reproductive phase of their life, consideration must be made for management of their pregnancies in the context of their genitourinary reconstruction. There have been few case reports of patients with cloacal exstrophy conceiving; therefore, information to guide management of their pregnancies is limited. Here we describe a patient with Omphalocele-Exstrophy-Imperforate Anus-Spinal defects (OEIS) and a patient with a history of bladder exstrophy both with spontaneous pregnancy managed by a multidisciplinary approach and primary cesarean delivery.

Urological outcomes in the omphalocele exstrophy imperforate anus spinal defects (OEIS) complex: Experience with 80 patients

ObjectiveTo review the urological management and outcomes of patients with the OEIS (omphalocele, exstrophy of the bladder, imperforate anus, spinal abnormalities) complex. Patients and methods80 patients with the OEIS complex managed at a single institution between 1974 and 2009 were reviewed. Results37 had initial closure at our institution (2 failed – 5%); 22 with successful closure were referred for incontinence; 15 failed closure at an outside institution (2 of whom are awaiting closure); 6 are skin-covered variants. Osteotomy was performed in 39/43 (91%) with successful closure versus 8/17 (47%) who failed initial bladder closure. 40 were dry (56%), but most needed additional urinary reconstruction: 2 had small bowel neobladders; 32 (84%) had augmentation cystoplasty; 30 (79%) had a continent catheterizable channel; only 9 (24%) were continent with an intact urethra. Bladder neck reconstruction allowed dryness in 7 (18%). 45 patients had XY genotype – 19 had female gender assignment at birth. All patients with XX genotype had female gender assignment. ConclusionsOsteotomy improves success of initial bladder closure. A bladder neck procedure, catheterizable channel, and augmentation cystoplasty will be required in the majority of patients to attain urinary dryness.

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome

The Neuro-Orthopedic Manifestations of the Omphalocele Exstrophy Imperforate Anus Spinal Defects (OEIS) Complex

Purpose OEIS complex is a severe multi-system congenital defect. As the pediatric urologist assumes a primary role in the comprehensive management of these patients, it is important to appreciate the impact of neurologic and orthopedic manifestations on the overall health of the child. Material and Methods We retrospectively reviewed the medical records of 75 children with OEIS treated at our institution. We identified neurologic and orthopedic anomalies and correlated them with the ambulatory ability and urologic status of the child. Results No neurologic data was available in 5 patients. Of the remaining 70 patients, 8 had no spinal anomalies, 61 had spina bifida (SB), and one had coccygeal hypoplasia. Thirty-eight of the SB patients were additionally classified: 5 as SB occulta, 13 as meningocele/lipomeningocele, 16 as myelomeningocele/lipomyelomeningocele, and 4 as sacral agenesis. Half of the patients with SB (30) had a tethered cord. The most common identified orthopedic anomalies requiring follow-up or surgery included vertebral malformation (62), scoliosis (25), club foot (6), and limb length discrepancy (8). The ambulatory status for 56 patients over the age of two revealed 40 to be fully ambulatory, 7 to ambulate with assistive devices, 2 to ambulate minimally with assistive devices, and 7 to be wheel-chair bound. Continence data was available in 63 closed cases. Twenty-three were incontinent, including 3 with conduit diversions. Forty patients were socially continent, with 35 catheterizing via continent abdominal stomas and 5 voiding/cathing through the urethra. Conclusions Early evaluation of neurosurgical and orthopedic anomalies is vital in caring for children with OEIS. Despite a high incidence of spinal pathology, most patients are able to ambulate without assistance. Very few children with OEIS achieve continence per urethra with volitional voiding. Vigilant follow up of spinal pathology in these children will help promptly identify correctable problems such as cord tethering which can significantly impact quality of life.

DISCORDANT OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS (OEIS) COMPLEX AND CARDIAC MALFORMATIONS IN MONOCHORIONIC TWINS

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex was first described by Carey et al. in 1978. It constitutes a specific combination of malformations. There are very few case reports of discordant OEIS in monozygotic twins and very few reports of OEIS in association with both hypoplastic left heart and ventricular septal defect. Our case represents the fifth reported case of cardiac malformations in a fetus with OEIS complex.

First‐trimester prenatal sonographic diagnosis of omphalocele‐exstrophy‐imperforate anus‐spinal defects complex

We describe a case of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) diagnosed at 13 weeks' gestation by ultrasound detection of a large multilocular ventral wall mass into which inserted the umbilical cord, and thoracic hemivertebrae with kyphoscoliosis. Subsequent sonographic examinations at 16 and 19 weeks revealed evolution of the ventral wall mass into a classic omphalocele. Clinicians should recognize the significance of a large multicystic ventral wall mass, which should lead to a search for other anomalies suggestive of OEIS complex.

Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III)

Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. NTDs associated with syndromes, disorders, and maternal and fetal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal identification of NTDs should alert the clinician to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

Prenatal 3‐dimensional sonographic and MRI findings in omphalocele–exstrophy–imperforate anus–spinal defects complex

We describe the second-trimester 3D sonographic and MRI findings of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex. We suggest that fetal 3-dimensional sonography with tomographic ultrasound imaging and MRI are useful adjuncts to conventional 2-dimensional sonography in the prenatal diagnosis of OEIS complex.

Syndromes and Disorders Associated with Omphalocele (II): OEIS Complex and Pentalogy Of Cantrell

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a defect of the diaphragmatic pericardium, a deficiency of the anterior diaphragm, and congenital cardiac anomalies. This article provides a comprehensive review of OEIS complex and pentalogy of Cantrell, including the pathogenesis, prenatal diagnosis, differential diagnosis, and associated malformations. Omphalocele is an important sonographic marker for OEIS complex and pentalogy of Cantrell. Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt the genetic investigation and counseling of the disorders.

A Newborn Who Has an Abdominal Wall Defect

A newborn female born at 35 weeks gestational age presents with an abdominal wall defect. ### Prenatal History: ### Presentation: Figure 1. Figure 2. The appearance of the abdominal wall was grossly abnormal and …

OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a consistent and recognizable pattern of midline abdominal and pelvic defects. It is rare, affecting 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestations. This is an autopsy study of OEIS complex in monozygotic twins after pregnancy termination at 20 weeks of gestation. Unremarkable family history but concordance of monozygotic twins for the defects may support the theory that early malformation complexes, e.g., OEIS, and monozygotic twinning are manifestations of the same disturbance of early blastogenesis.