Cloacal Exstrophy

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Cloacal Exstrophy Cloacal exstrophy, or OEIS Syndrome, is a rare birth defect. It is the most severe form in a group of birth defects called bladder exstrophy- epispadias complex (BEEC). Cloacal exstrophy occurs during the What is it? development of the abdominal wall structures before birth. As a result, an infant may be born with some abdominal organs exposed on the outside of the body. Pelvic bones, kidneys, and the spinal cord may also be affected. Typically, the bladder is divided into two parts next to a section of the large intestine outside the body. In addition, boys are usually born with a flat, short penis that is separated into two halves. Girls are usually born with a clitoris that is separated into two halves. OEIS Syndrome consists of four distinct physical characteristics: Omphalocele: Occurs when some organs (liver, spleen, intestine) push through the abdominal muscles near the umbilical cord and are exposed. Exstrophy of the rectum/bladder: Rectum exstrophy occurs when the rectum is positioned outside of the body between the two bladder halves. Bladder exstrophy occurs when the bladder is divided into two halves outside of the abdomen and cannot hold urine. Imperforate anus: Occurs when the anus is not formed or has no opening. Spinal defects: Includes spina bifida, which is common in infants born with cloacal exstrophy. How common is it? It is a rare and severe birth defect. It occurs in about 1 out of every 250,000 infants born each year. The cause of cloacal exstrophy is unknown. It could be caused by What causes it? environmental and/or genetic factors. It is often diagnosed during pregnancy by a fetal ultrasound. Once the How is it diagnosed? infant is born, the diagnosis can be confirmed by a physical exam. Cloacal exstrophy is treated with reconstructive surgery that takes place throughout several years and includes different stages. Treatments How is it treated? include abdominal repair, osteotomies (bladder surgery), For more information: and pull-through surgery Children’s Hospital of Philadelphia (connects the colon to the rectum). http://www.chop.edu/conditions-diseases/bladder- exstrophy Mayo Clinic https://www.mayoclinic.org/diseases-conditions/bladder- exstrophy/symptoms-causes/syc-20391299 .

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Bladder & Cloacal Exstrophy
Bladder & Cloacal Exstrophy: A 30 Year Journey of Innovation Rosemary H. Grant, RN BSN Boston Childrens Hospital Department of Urology/ Surgical Programs 27th Annual APSNA Scientific Conference Palm Desert , California Bladder & Cloacal Exstrophy There are no disclosures Bladder & Cloacal Extrophy Objectives Identify 3 systems involved in the Exstrophy Complex Diagnosis Define the procedure for management of the exstrophied bladder State 2 components of psychosocial support for the Exstrophy Population 1 Exstrophy Complex Exstrophy – Epispadias (EEC): Classic Bladder Exstrophy Epispadias Cloacal Exstrophy (OEIS): Omphalocele Exstrophy Imperforate anus Spinal anomaly Exstrophy/Epispadias Complex (EEC) Incidence- 1:10,000- 1:50,000 live births 5:1 ratio of male- female births Embryology Typically occurs between 9 and 12 weeks gestation Cloacal membrane ruptures prematurely AFTER separation of the GI and GU tracts Presentation: Eversion of the bladder through an abdominal wall defect Exposure of the inner bladder mucosa Exposure of the dorsal urethra Lack of musculature in the anterior abdominal wall over the bladder Bladder is exposed and drains onto the abdomen Bladder Exstrophy Prenatal Diagnosis (Fetal US) Courtesy of Carol Barnewolt, MD 2 Bladder Exstrophy (Boy) Boy: Frontal view Umbilicus Bladder Low-lying umbilicus Urethral Exposed (inside-out) bladder Plate Urethra open on dorsum (top) Glans of the penis Penis Scrotum Bladder Exstrophy (Girl) Girl: Frontal view Umbilicus Bladder open on Bladder abdominal wall Urethral Urethra open
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OEIS Complex, a Case Report
Case Report iMedPub Journals Journal of Intensive and Critical Care 2016 http://www.imedpub.com ISSN 2471-8505 Vol. 2 No. 1:4 DOI: 10.21767/2471-8505.100013 OEIS Complex, A Case Report Manassero-Morales G, Franco-Bustamante K, Matos-Rojas I Abstract National Institute of Child Health, San Borja, Introduction: The OEIS complex includes: Omphalocele, Exstrophy of the cloaca, Lima, Perú Imperforate anus, and Spinal defects. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and its etiology is uncertain. The purpose is to present our experience in this unusual coexistence of malformations never reported in Latin Corresponding author: America. Manassero-Morales G Clinical Case: A male infant, three months of age, diagnosed at birth with omphalocele, cloacal exstrophy, double hemi bladder, rectum and anal atresia, [email protected] bilateral clubfeet and lumbosacral bifid spine. Abdominal MRI confirmed clinical findings and also showed horseshoe kidney, bilateral enlarged renal pelvis. Instituto Nacional de Salud del Niño-San Borja, Lumbosacral spine MRI revealed lipomeningocele, hypoplastic sacrum and pubic Lima, Perú agenesia. In the first two days of life, this patient underwent several surgical procedures. Currently (3 months old) is waiting for further surgical reconstruction. Conclusion: The case described meets the clinical criteria for OIES complex; in the Citation: Manassero-Morales G, Franco- absence of a family history that could suggest a pattern of Mendelian inheritance Bustamante K, Matos-Rojas I .OEIS Complex, and normal cytogenetic study. We conclude that this is an isolated case of probable A Case Report. J Intensive & Crit Care 2016, multifactorial inheritance.
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An Omphalocele Exstrophy Imperforate Anus Spinal Abnormality (OEIS) Variant
Delayed recognition of bladder exstrophy and persistent cloaca: An Omphalocele exstrophy imperforate anus spinal abnormality (OEIS) Variant Itunu O. Arojo MD, Lynn L. Woo MD. HPI • Newborn term infant with abnormal prenatal ultrasound on 22- week anatomy scan. – Widened pubic diastasis – Dilated rectosigmoid colon – Mild polyhydramnios – Distended bladder in pelvis protruding into the omphalocele • Empties during exam • Mother aged 31 G3P3, otherwise healthy • Prenatal MRI obtained to confirm findings 2 Physical Exam • Omphalocele • Asymmetric labia/clitoral tissue • Fistulous connection to the bladder • Imperforate anus with a single mucosal-lined opening in perineum 6 Diagnostic evaluation • Cystoscopy/EUA – cloacal malformation – Appearance of an intact urethra/bladder neck complex – vaginal duplication – fistulous tract to the rectum 7 Diagnostic evaluation • Cystogram – smooth-walled bladder without evidence of reflux • Spinal ultrasound was normal. 8 • DOL 4 – Omphalocele rupture revealed bladder exstrophy 9 Hospital course • She underwent a diverting colostomy on DOL 4. • Discharged home with seran wrap coverage and prophylatic antibiotics • Cloacal repair and closure of bladder exstrophy is planned at age 6 months of age. 10 Discussion • Cloacal exstrophy is a rare and complex congenital anomaly • Incidence of 1/200,000-400,000 live birth • Occurs along a spectrum • Associated omphalocele often contains bowel or liver • Prenatal diagnosis of exstrophy is difficult to make. Often a diagnosis of omphalocele/gastroschisis made and the exstrophy overlooked . 11 Conclusion • This case highlights the complexity associated with diagnosis of exstrophy- epispadias complex. Despite advances in prenatal imaging, diagnosis of this condition relies upon physical examination with the knowledge that each presentation can be different; not fitting in one box.
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8 Urologic Emergencies in Children: Special Considerations
Chapter 8 Urologic Emergencies in Children: 8 Special Considerations A. Cook, A.E. Koury fore cover common emergent and urgent pediatric uro- 8.1 Introduction 73 logic consultations encountered from birth through 8.2 Adrenal 73 childhood. Prenatal diagnoses and their respective 8.2.1 CAH and Intersex 73 8.2.2 Adrenal Hemorrhage 75 management options (such as fetal obstructive uropa- thy) will not be considered, as they are beyond the 8.3 Kidney 75 8.3.1 Anomalies and Masses 75 scope of this chapter and do not necessarily reflect the 8.3.2 Cystic Renal Lesions 76 typical urologic conditions encountered in the emer- 8.3.3 Solid Renal and Juxtarenal Lesions 78 gency department. The chapter will progress via an an- 8.3.4 Pyelonephritis and Pyonephrosis 80 atomical top-down approach, emphasizing various 8.3.5 Trauma 82 conditions from adrenal disorders to scrotal and testic- 8.3.6 Calculi 83 ular pathology. 8.4 Bladder 84 8.4.1 Exstrophy 84 8.4.2 Bladder Trauma 86 8.4.3 Bladder Rupture Postaugmentation 87 8.2 8.4.4 Urinary Retention 87 Adrenal 8.5 External Genitalia 89 8.2.1 8.5.1 Penis 89 8.5.1.1 Circumcision Injuries 89 CAH and Intersex 8.5.1.2 Paraphimosis and Phimosis 90 8.5.1.3 Urethral Trauma 91 Although sexual ambiguity in the newborn can be a 8.5.2 Scrotum 93 very distressing condition for the new parents of an af- 8.5.2.1 The Acute Scrotum 93 fected child, investigations attempting to elucidate the 8.5.2.2 Testicular Torsion 93 underlying etiology for ambiguity must be undertaken 8.5.2.3 Neonatal Torsion 93 rapidly in order to avoid potentially fatal complica- 8.5.2.4 Pediatric Torsion 94 8.5.2.5 Epididymitis 94 tions.
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The OEIS Complex (Omphalocele-Exstrophy- J Med Genet: First Published As 10.1136/Jmg.29.10.730 on 1 October 1992
7307JMed Genet 1992; 29: 730-732 The OEIS complex (omphalocele-exstrophy- J Med Genet: first published as 10.1136/jmg.29.10.730 on 1 October 1992. Downloaded from imperforate anus-spinal defects): recurrence in sibs N M Smith, H M Chambers, M E Furness, E A Haan Abstract deficient anterior abdominal wall, and fluid The OEIS complex comprises a com- filled spaces at the back of the neck, extending bination of defects including omphalo- inferiorly on to the back. The amniotic fluid cele, exstrophy of the cloaca, imperforate volume was normal. The parents elected to anus, and spinal defects. It may represent continue the pregnancy. A glucose tolerance the most severe manifestation of a spec- test was normal. A stillborn infant was deli- trum of birth defects, the exstrophy- vered at 30 weeks' gestation after spontaneous epispadias sequence. The OEIS complex membrane rupture. affects 1 in 200 000 to 400 000 pregnancies At necropsy the fetus weighed 1110 g and and is of unknown cause. The purpose of was of indeterminate sex. The anterior abdom- the current report is to document the inal wall was absent, the viscera being partly occurrence of OEIS in sibs from separate covered by a thin walled omphalocele sac. The pregnancies and suggest that some cases bladder was exstrophied and connected to nor- may have a genetic basis. mal kidneys via narrow and ill-defined ureters (J7 Med Genet 1992;29:730-2) and the external genitalia were absent. The anus was imperforate and a spinal defect com- prising a meningocele from mid-thorax to per- In 1978 Carey et al' gave the name OEIS ineum was present.
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Oeis Complex (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects): a Confusing Syndrome
case reports 2021; 7(1) https://doi.org/10.15446/cr.v7n1.85912 OEIS COMPLEX (OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS): A CONFUSING SYNDROME. CASE REPORT Keywords: Meningomyelocele; Anus, Imperforate; Neural Tube Defects; Bladder Exstrophy. Palabras clave: Meningomielocele; Ano imperforado; Defectos del tubo neural; Extrofia de la vejiga. Eugenia Espinosa-García Universidad Militar Nueva Granada - Faculty of Medicine and Health Sciences - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Universidad del Rosario - School of Medicine and Health Sciences - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Hospital Militar Central - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Natalia Martínez-Córdoba Universidad Militar Nueva Granada - Faculty of Medicine and Health Sciences - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Corresponding author Natalia Martínez-Córdoba. Departamento de Neurología Pediátrica, Facultad de Medicina y Ciencias de la Salud, Universidad Militar Nueva Granada. Bogotá D.C. Colombia. Email: [email protected]. Received: 27/03/2020 Accepted: 20/05/2020 case reports Vol. 7 No. 1: 41-9 42 RESUMEN ABSTRACT Introducción. El complejo OEIS es un conjunto Introduction: The OEIS complex is a group de defectos polimalformativos con baja incidencia of polymorphic defects with low incidence and y prevalencia mundial que suele estar asociado a prevalence worldwide. It is associated with epi- causas epigenéticas y genéticas que ocasionan genetic and genetic causes that occur in early alteración al final de la blastogénesis, dando como blastogenesis, resulting in 4 classic malformations resultado la asociación de cuatro malformaciones consisting of omphalocele, bladder/cloaca ex- clásicas: onfalocele, extrofia vesical, ano imperfo- strophy, imperforate anus, and spinal cord injuries.
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(OEIS) Complex: About Two Cases and Review
Case Report JOJ Case Stud Volume 8 Issue 5 - October 2018 Copyright © All rights are reserved by Ons Cherif DOI: 10.19080/JOJCS.2018.08.555749 Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects (OEIS) Complex: About Two Cases and Review Raja Briki, Ons Cherif*, Mouna Derouich, Rym Zgaya, Anouar Chaieb and Mohamed Bibi Department of Gynecology and Obstetrics, Farhat Hached University Hospital, Tunisia Submission: October 01, 2018; Published: October 11, 2018 *Corresponding author: Ons Cherif, Department of Gynecology and Obstetrics, Farhat Hached University Hospital, Sousse, Tunisia, Email: Abstract OEIS complex (Omphalocele, Exstrophy of the cloaca or the bladder, Imperforate anus, and Spine abnormalities) is a rare defect, without obvious etiology in most cases. We report two cases of OEIS complex, and we propose to review the different causes, the etiopathogenesis as well as the clinical characteristics of this pathological entity by referring to a recent review of the literature. Keywords: Omphalocele; Exstrophy; Imperforate anus; Spine; Infraumbilical mesenchyme, Cloacal septum; Ultrasonography Introduction two observations and a recent review of literature. Omphalocele, exstrophy of cloaca or bladder, imperforate Clinical Cases described by Carey et al. [1]. It’s a rare congenital defect. The most anus and spinal defect (OEIS) complex is a clinical entity first Observation 1 recent studies report an incidence of 1/200000 [2] to 1/100000 Mrs I.J, aged 34, was presented at 32 weeks gestation for live births [3]. obstetric ultrasound. Her pregnancy was spontaneous, with The OEIS complex is usually sporadic and arises from a single normal unwinding. Ultrasonography of the 3rd trimester showed localized defect in the early development of the mesoderm that will an omphalocele, a short and narrow thorax, lumbar and sacral later contribute to infraumbilical mesenchyme, cloacal septum, vertebral abnormalities associated with myelomeningocele, and caudal vertebrae [4].
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Cloacal Exstrophy, a Rare Fetal Malformation with Difficult
eISSN 2255-0569 ESTUDI DE CASOS Cloacal exstrophy, a rare fetal malformation with difficult prenatal sonographic diagnosis: two case reports Extrofia cloacal, una malformación fetal rara con diagnóstico ecográfico prenatal difícil: dos informes de casos Miriam Crespo Rodríguez, Laia Vila Homs, Rafael José Campos Candela, Carmen María Simón Salvador, Celia Garrido Palmer, Rosa Ruiz de Gopegui, José Luis Vidal Saiz Gynaecology and Obstetrics Service. University Hospital Son Espases, Palma de Mallorca Correspondencia Recibido: 27 -V - 2020 Miriam Crespo Rodríguez Aceptado: 28 - VII - 2020 Bonaire p6 2-1 Palma de Mallorca, Baleares. España E-mail: [email protected] doi: 10.3306/MEDICINABALEAR.35.03.43 Abstract Cloacal exstrophy is a rare condition for which prenatal diagnosis is challenging. This pathology entails a great deal of fetal and neonatal morbimortality that requires multidisciplinary management. We present two cases of perinatal diagnosis. The first of these is a case in which the cloacal exstrophy was diagnosed prior to the rupture of the cloacal membrane, which is rare in practice and hardly described in the literature. In the second case, an abnormality of the non-filmed abdominal wall was detected, which had a fatal outcome, the death of the newborn. The diagnosis came after, by autopsy study of the cloacal exstrophy. Keywords: Fetal malformations, prenatal diagnosis, antenatal care, obstetrics sonography, cloacal exstrophy. Resumen La extrofia cloacal es una condición poco común para la cual el diagnóstico prenatal es un desafío. Esta patología conlleva una gran cantidad de enfermedades fetales y morbimortalidad neonatal que requiere un manejo multidisciplinario. Presentamos dos casos de diagnóstico perinatal. El primero de ellos es un caso en el que la extrofia cloacal fue diagnosticada antes de la rotura de la membrana cloacal, que es rara en la práctica y poco descrita en la literatura.
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Cloacal Exstrophy
Royal Manchester Children’s Hospital Information for Patients Cloacal Exstrophy This leaflet is for parents or carers whose baby has recently been diagnosed with Cloacal Exstrophy. We understand that you may be confused and worried about what will happen. This information leaflet aims to support you by covering some commonly asked questions. What is Cloacal Exstrophy? Cloacal Exstrophy is part of a spectrum of birth defects that affect the bladder called the Bladder Exstrophy & Epispadias complex, the urethra, the genitals and the pelvic bone. Epispadias is at the minor end of the spectrum with cloacal exstrophy being the most severe form, and Cloacal Exstrophy additionally affecting the bowel. Cloacal Exstrophy is a very rare and complex abnormality and is estimated to occur in approximately 1 in every 200,00-400,000 live births. A baby born with Cloacal Exstrophy is born with the bladder and bowel on the outside, and the pelvic bones are open like a book. The anus is often not formed (also known as an imperforate anus) and the intestine can be short. All babies born with Cloacal Exstrophy will also be born with abnormal genitalia, which in boys means the penis is short, open and flat or in girls, the labia and clitoris are split, and occasionally two vaginal openings are present. In approximately 75% of Cloacal Exstrophy cases, there are other birth defects such as Spina Bifida, Omphalocele (where the intestines are covered by only a thin layer of tissue) or kidney abnormalities. Why do I have to come to Manchester or London? There are two specialist centres for children born with Cloacal Exstrophy in the United Kingdom, which are Royal Manchester Children’s Hospital and Great Ormond Street Hospital in London.
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1. Delayed Recognition of Bladder Exstrophy and Persistent Cloaca: an OEIS Variant Authors: Itunu O
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The Genomic Architecture of Bladder Exstrophy Epispadias Complex
G C A T T A C G G C A T genes Review The Genomic Architecture of Bladder Exstrophy Epispadias Complex Glenda M. Beaman 1,2, Raimondo M. Cervellione 3, David Keene 3, Heiko Reutter 4 and William G. Newman 1,2,* 1 Division of Evolution and Genomic Sciences, Faculty of Biology, School of Biological Sciences, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; [email protected] 2 Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK 3 Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; [email protected] (R.M.C.); [email protected] (D.K.) 4 Department of Neonatology and Paediatric Intensive Care, University Hospital Erlangen, 91054 Erlangen, Germany; [email protected] * Correspondence: [email protected] Abstract: The bladder exstrophy–epispadias complex (BEEC) is an abdominal midline malformation comprising a spectrum of congenital genitourinary abnormalities of the abdominal wall, pelvis, urinary tract, genitalia, anus, and spine. The vast majority of BEEC cases are classiﬁed as non- syndromic and the etiology of this malformation is still unknown. This review presents the current knowledge on this multifactorial disorder, including phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. Citation: Beaman, G.M.; Cervellione, R.M.; Keene, D.; Reutter, H.; Keywords: BEEC; bladder exstrophy; epispadias; cloacal exstrophy Newman, W.G. The Genomic Architecture of Bladder Exstrophy Epispadias Complex. Genes 2021, 12, 1149. https://doi.org/10.3390/ 1. Introduction genes12081149 Congenital anomalies of the lower urinary tract (CALUT) are a group of birth defects of the ureter, bladder, and urethra, which includes bladder exstrophy–epispadias com- Academic Editors: Albert Jeltsch and plex (BEEC, MIM #600057).
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