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anorectal anomalies

Jason K Lee, Alexander J Towbin
Currarino syndrome is a congenital disorder, consisting of a triad of anomalies including an anorectal malformation, sacral anomaly, and a presacral mass. Anterior sacral meningoceles are the most common presacral mass. A young child presented to our institution with an unrepaired anorectal malformation and a large anterior sacral meningocele. We describe how the anterior meningocele affected the imaging work-up.
June 2016: Journal of Radiology Case Reports
Robson Azevedo Dutra, Adriana Cartafina Perez Boscollo
Background: The anorectal anomalies consist in a complex group of birth defects. Laparoscopic-assisted anorectoplasty improved visualization of the rectal fistula and the ability to place the pull-through segment within the elevator muscle complex with minimal dissection. There is no consensus on how the fistula should be managed. Aim: To evaluate the laparoscopic-assisted anorectoplasty and the treatment of the rectal urinary fistula by a bipolar sealing device...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Osama Ibrahim Almosallam, Ali Aseeri, Saud Al Shanafey
BACKGROUND: Colostomy is a common part of the management of high anorectal malformation (ARM) in the pediatric population. OBJECTIVE: To evaluate whether the type of colostomy (loop vs divided) has an impact on outcome in patients with ARM. DESIGN: A retrospective study. SETTING: King Faisal Specialist Hospital and Research Center, a tertiary care center. PATIENTS AND METHODS: All patients who were managed with colostomy for ARM and had definitive repair during the period of January 2000 to December 2014...
September 2016: Annals of Saudi Medicine
Shilpa Sharma, Devendra K Gupta
Congenital H-type fistula is a rare congenital rectourogenital connection with an external anal opening in a normal or ectopic position. A systematic review was done to study the anatomical types of congenital H-type fistula, embryology, clinical presentation, relative gender distribution, associated anomalies, investigative modalities, and recent advances in treatment of these lesions. A PubMed search included H-type anorectal malformation; H-type anorectal malformations; H-type anorectal; and H-type congenital anorectal that gave 9;43;76;26 abstracts, respectively...
October 1, 2016: Pediatric Surgery International
Bindey Kumar, Amit Kumar Sinha, Prem Kumar, Anil Kumar
Currarino syndrome (CS) is a rare clinical condition. The classical presentation includes a triad of sacral anomaly, anorectal malformations, and presacral mass. This syndrome belongs to the group of persistent neuroenteric malformations. This article presents two cases of Currarino syndrome, where there was rare clinical variants such as rectal atresia in the first case and rectal stenosis in the second case. The clinical presentations were very deceptive as the first case presented as high anorectal malformation and the second case was simulating Hirschprung's disease...
October 2016: Journal of Indian Association of Pediatric Surgeons
Jara E Jonker, Eryn T Liem, Nynke J Elzenga, Bouwe Molenbuur, Monika Trzpis, Paul M A Broens
OBJECTIVE: To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. STUDY DESIGN: We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major...
September 26, 2016: Journal of Pediatrics
L Donon, S Warembourg, J-F Lapray, A Cortesse, J-F Hermieu, B Fatton, M Cayrac, X Deffieux, M Geraud, L Le Normand
INTRODUCTION: The issue addressed in this chapter of recommendations is: What is the clinical and para-clinical assessment to achieve in women with genital prolapse and for whom surgical treatment has been decided. What are the clinical elements of the examination that must be taken into account as a risk factor of failure or relapse after surgery, in order to anticipate and evaluate possible surgical difficulties, and to move towards a preferred surgical technique? MATERIAL AND METHODS: This work is based on a systematic review of the literature (PubMed, Medline, Cochrane Library, Cochrane Database of Systemactic Reviews, EMBASE) for meta-analyzes, randomized trials, registries, literature reviews, controlled studies and major not controlled studies, published on the subject...
July 2016: Progrès en Urologie
G C Dworschak, C Crétolle, A Hilger, H Engels, E Korsch, H Reutter, M Ludwig
Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q)...
August 23, 2016: Clinical Genetics
Robyn Jacobs, Leanne Boyd, Kirsty Brennan, C K Sinha, Stefano Giuliani
BACKGROUND: We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. METHODS: Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs...
November 2016: Journal of Pediatric Surgery
Usang E Usang, Thomas U Agan, Akan W Inyang, John-Daniel C Emehute, Itam H Itam
BACKGROUND: The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it. CASE PRESENTATION: We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity...
2016: Journal of Medical Case Reports
Kristiina Kyrklund, Mikko P Pakarinen, Seppo Taskinen, Reetta Kivisaari, Risto J Rintala
OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed...
July 22, 2016: Journal of Neurosurgery. Spine
R Angotti, F Molinaro, A L Bulotta, F Ferrara, M Sica, E Bindi, M Messina
More than 50% of infants with esophageal atresia have associated anomalies. We present a case report of a 46XX neonate with long-gap esophageal atresia and tracheoesophageal fistula (EA/TEF), anorectal malformation, bowel duplication and vaginal agenesis. This is an unusual association of abnormalities which had not yet described in literature.
July 2016: Journal of Neonatal Surgery
Fernando Montes-Tapia, Idalia Cura-Esquivel, Susana Gutiérrez, Isaías Rodríguez-Balderrama, Manuel de la O-Cavazos
Congenital abdominal wall defects that are located outside of the anterior wall are extremely rare and difficult to classify because there are no well accepted guidelines. There are two regions outside of the anterior wall: the flank or lateral wall; and the lumbar region. We report the case of a patient with an oval 3 cm-diameter hernia defect located above the anterior axillary line, which affects all layers of the muscular wall. An anorectal malformation consisting of a recto-vestibular fistula was also identified, and chest X-ray showed dextrocardia...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Giorgia Totonelli, Francesco Morini, Vincenzo Davide Catania, Paolo Maria Schingo, Giovanni Mosiello, Paolo Palma, Barbara Daniela Iacobelli, Pietro Bagolan
PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI)...
August 2016: Pediatric Surgery International
Victoria A Lane, Erica Ambeba, Deena J Chisolm, Daniel Lodwick, Marc A Levitt, Richard J Wood, Katherine J Deans, Peter C Minneci
BACKGROUND: The aim of this study was to establish the rate of screening for associated cardiac, vertebral, spinal cord, urologic, and limb anomalies vertebral ano-rectal cardiac tracheo-esophageal renal limb (VACTERL) in children with anorectal malformation (ARM). METHODS: We performed a retrospective cohort study using the Medicaid Analytic eXtract database which contains enrollment and utilization claims and demographic information from all Medicaid enrollees...
June 15, 2016: Journal of Surgical Research
Matthew J Ziegelmann, Boyd R Viers, Patrick A Cockerill, Lyndsay D Viers, Jane M Matsumoto, Candace F Granberg
Accessory scrotum, a rare form of congenital scrotal anomaly that is often associated with other genitourinary and anorectal anomalies, is characterized by ectopic scrotal tissue in the presence of a normal, orthotopic scrotum. Here, we present a case of accessory scrotum in a newborn male. We describe our experience with the utilization of pre-operative pelvic-MRI to characterize the complex relationship between the accessory scrotum and ano-sphincteric complex, as well as identify associated genitourinary abnormalities...
June 15, 2016: Urology
Idil Rana User, Süleyman Cüneyt Karakus, Vedat Akçaer, Bülent Hayri Özokutan, Haluk Ceylan
OBJECTIVE: Congenital anterior urethrocutaneous fistula, is a rare anomaly characterised by fistulisation of penile urethra to skin and presence of a concomitant normal or hypospadiac external urethral meatus. It may be seen as an isolated anomaly or may accompany genitourinary or anorectal malformations. We aim to present 3 new cases and define the common properties of patients stated in literature. METHOD: Information of 3 patients aged 2, 3 and 6 with this diagnosis were reviewed retrospectively and features of 51 patients in 25 articles with literature search...
June 2016: Archivos Españoles de Urología
Omid Amanollahi, Saman Ketabchian
BACKGROUND: Anorectal malformations (ARMs) disease is one of the congenital anomalies with an incidence of about 1 in 5000 neonate births, and treatment requires surgical intervention. Selecting the one- or three-step surgical procedure to treat the disease, especially in female neonates with rectovestibular fistula, is a subject of debate. This study aims to compare the advantages and disadvantages of these two methods. MATERIALS AND METHODS: Forty female neonates with ARM and rectovestibular fistula between March 2011 and March 2013 were included in the study, and they were divided into two equal groups...
January 2016: African Journal of Paediatric Surgery: AJPS
Bruno Martinez-Leo, Patrick Chesley, Shumyle Alam, Jason S Frischer, Marc A Levitt, Jeffrey Avansino, Belinda Hsi Dickie
INTRODUCTION: Intestinal malrotation is a known association of anorectal malformations (ARM). Exact incidence, prognosis and surgical implications related to ARM are unknown. The aim of this study was to identify relevant associations between ARM and the presence of malrotation. METHODS: Records of patients from two referral centers were retrospectively analyzed looking for malrotation associated to ARM and its management, as well as factors for functional prognosis...
August 2016: Journal of Pediatric Surgery
Veronica Alonso, Sonia Perez, Rafael Barrero, Francisco Garcia-Merino
Vas deferens ectopia is a rare congenital anomaly frequently associated with anorectal abnormalities and hypospadias. We present a Currarino syndrome case with an ectopic vas deferens terminating in a distal retroiliac ureter. A left vasectomy, ureteral decussation over the iliac vessels and a Cohen's type ureteral reimplantation were performed. The objectives are to preserve renal function, prevent epididymitis and preserve fertility. There is no evidence in the literature that recommends surgical correction of the vas deferens...
May 24, 2016: Urology
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