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Journal of Indian Association of... 2022Posterior cloacal malformations (PCMs) are distinguished from classical cloacal malformations by the posterior location of the common opening in the perineum. We aim to...
AIM
Posterior cloacal malformations (PCMs) are distinguished from classical cloacal malformations by the posterior location of the common opening in the perineum. We aim to describe our experience of management of these rare and complex malformations.
METHODS
This study was a retrospective chart review of all patients with PCM who underwent treatment at Kalawati Saran Children's Hospital (KSCH), New Delhi, and Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, between 2013 and 2021. Individual anatomical variations and their impact on the clinical presentation, management, and final outcome (cosmesis and function) were recorded and analyzed.
RESULTS
During the study period, four girls with a median age of 2 (range: 0-5) years presented to us with PCM. Three patients were referred to KSCH as ambiguous genitalia whereas one patient was born at SGPGIMS with an antenatal diagnosis of "urorectal septal defect." On examination, three patients had the urogenital sinus (UGS) opening immediately anterior to the normally located anal opening (2 orifices), whereas one had a single orifice at the normal location of the anus with the UGS opening in the anterior rectal wall. Associated anomalies included: (a) hydrocolpos ( = 3), which was managed by a tube vaginostomy; (b) urethral duplication with dorsal atretic urethra ( = 3); (c) uterine didelphys ( = 1); (d) bilateral grade 5 vesicoureteric reflux ( = 1); and (e) vaginal calculus ( = 1). Total urogenital mobilization (anterior sagittal approach) with feminizing genitoplasty was performed for patients with UGS and normal anus ( = 3). In the patient with a single opening at the normal location of the anus, posterior sagittal ano-recto-urethro-vaginoplasty was performed. At a median follow-up of 24 months, three patients are continent for urine and stool, whereas one patient is yet to be toilet trained.
CONCLUSIONS
PCMs are unusual complex malformations that necessitate meticulous clinical examination, detailed diagnostic workup, and multistaged surgical management. Management should be tailored as per each individual patient's anatomy and clinical presentation for an optimal outcome.
PubMed: 36714474
DOI: 10.4103/jiaps.jiaps_39_22 -
Seminars in Pediatric Surgery Dec 2020Anorectal malformations (ARM) are well recognized to be associated with anomalies in other organ systems. The introduction of screening protocols has increased the... (Review)
Review
Anorectal malformations (ARM) are well recognized to be associated with anomalies in other organ systems. The introduction of screening protocols has increased the diagnosis of these anomalies and greater collaboration with other specialties has influenced the treatment and follow-up of patients with ARMs. Much of the medical literature regarding the treatment of anorectal malformations has focused on technical details of operations and early post-surgical outcomes. Recently, an increase in published data regarding the long-term sequelae of an ARM diagnosis has resulted in an emphasis extended follow up in this population. Patient support groups have highlighted complex issues in ARM patients persist into adulthood have advocated for improved transitional care. This article describes the benefits of long-term follow-up and identifies key issues in ARM patients with respect to urologic and gynecologic health. A collaborative model of care is outlined and suggested timings of screening for potential problems is described.
Topics: Abnormalities, Multiple; Aftercare; Anorectal Malformations; Cooperative Behavior; Gastroenterology; Gynecology; Humans; Interprofessional Relations; Patient Care Team; Pediatrics; Urogenital Abnormalities; Urology
PubMed: 33288143
DOI: 10.1016/j.sempedsurg.2020.150987 -
American Journal of Medical Genetics.... Dec 2021The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A),...
The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis, the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN, and ZIC3 have been associated with the VATER/VACTERL association; however, large-scale re-sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL-like phenotype to identify potentially novel genetic causes. Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. Our study suggests six biallelic and X-chromosomal hemizygous VATER/VACTERL disease genes implicating all six genes in the expression of human renal malformations.
Topics: Anorectal Malformations; Cytoskeletal Proteins; DNA-Binding Proteins; Esophageal Atresia; Female; Genes, X-Linked; Genetic Association Studies; Genetic Predisposition to Disease; HSP90 Heat-Shock Proteins; Heart Diseases; Hemizygote; Homeodomain Proteins; Humans; Kidney; Male; Receptors, Interleukin; Tracheoesophageal Fistula; Transcription Factors; Exome Sequencing
PubMed: 34338422
DOI: 10.1002/ajmg.a.62447 -
Orphanet Journal of Rare Diseases May 2011Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents... (Review)
Review
BACKGROUND
Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors.
METHODS
Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Library databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals) were determined to quantify associations of maternal and paternal smoking, maternal alcohol consumption, underweight (body mass index [BMI] < 18.5), overweight (BMI 25-29.9), obesity (BMI ≥30) and maternal diabetes mellitus with ARM using meta-analyses.
RESULTS
22 studies that reported on the association between prenatal environmental risk factors and infants born with ARM were included in this review. These were conducted in the United States of America (n = 12), Spain (n = 2), Sweden (n = 2), the Netherlands (n = 2), Japan (n = 1), France (n = 1), Germany (n = 1) and Hungary (n = 1). However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, control types and adjustment for covariates. Consistently increased risks were observed for paternal smoking and maternal overweight, obesity and diabetes, but not for maternal smoking and alcohol consumption. In meta-analyses, pooled odds ratios (95% confidence intervals) for paternal smoking, maternal overweight, obesity, pre-gestational and gestational diabetes were 1.53 (1.04-2.26), 1.25 (1.07-1.47), 1.64 (1.35-2.00), 4.51 (2.55-7.97) and 1.81 (1.23-2.65), respectively.
CONCLUSION
Evidence on risk factors for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate paternal smoking and maternal overweight, obesity and diabetes to be associated with increased risks. Further, ideally large-scale multicentre and register-based studies are needed to clarify the role of key risk factors for the development of ARM.
Topics: Anorectal Malformations; Anus, Imperforate; Female; Hazardous Substances; Humans; Infant, Newborn; Pregnancy; Prenatal Exposure Delayed Effects; Risk Factors
PubMed: 21586115
DOI: 10.1186/1750-1172-6-25 -
BMC Pediatrics Dec 2022Children with anorectal malformation (ARM) and Hirschsprung's Disease (HD) live with permanent urinary and bowel symptoms, possibly impairing motor development in early...
BACKGROUND
Children with anorectal malformation (ARM) and Hirschsprung's Disease (HD) live with permanent urinary and bowel symptoms, possibly impairing motor development in early childhood. Not being able to swim adds an unnecessary health risk. The aim of this study was to determine the ability to swim and physical self-concept in patients with ARM and HD.
METHODS
We performed an anonymous survey among the members of the national patient organization SoMA e.V. (6 through 25 years). A control group was recruited from our department. Ability to swim, symptom load according to Rintala Score and physical self-concept were recorded using validated questionnaires. Patients were matched with controls according to gender and age. Mean scores and 95%-confidence intervals (95%-CI) were calculated, χ-test and multiple linear regression models were used as appropriate.
RESULTS
Totally, 83 match-control-pairs were included. Patients learned to swim at a similar age and rate (6.5 years, 95%-CI: 6.1-6.9, 74.7% swimmers) compared to controls (6.4 years, 95%-CI: 6.1-6.8, 79.5% swimmers, p = 0.46). VACTERL patients had a significantly lower swimmer rate (59.1%, p = 0.048). Swimmers had a significantly higher mean Rintala Score (12.5, 95%-CI: 11.6-13.2) compared to non-swimmers (10.4, 95%-CI: 8.1-12.1, p = 0,049). In prepubertal children (6 through 12 years), no difference in physical self-concept was shown compared to controls. Adolescents and young adults with ARM/HD, especially females, had a significantly lower mean score for the subscales of flexibility, speed, endurance and sports competence, independent of bowel symptom load according to Rintala Score.
CONCLUSIONS
Patients with ARM/HD have normal swimming skills and a normal physical self-concept in childhood that decreases with age compared to peers. In adolescence, parents and health care professionals should actively promote physical activity in ARM/HD patients.
Topics: Child; Adolescent; Young Adult; Female; Humans; Child, Preschool; Anorectal Malformations; Hirschsprung Disease; Case-Control Studies; Swimming; Surveys and Questionnaires
PubMed: 36517764
DOI: 10.1186/s12887-022-03782-5 -
Journal of Medical Genetics Aug 1988Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a... (Review)
Review
Triphalangeal thumb (TPT), a rare malformation of uncertain pathogenesis, may occur as an isolated defect, in association with other malformations of the hands, or as a feature of a syndrome or sequence. Isolated TPT occurs in two functional types: opposable and non-opposable. The latter appears to be inherited as a simple autosomal dominant trait, while the former is generally sporadic. TPT is associated with a number of specific malformations of the hand or foot, several of which have a well documented autosomal dominant pattern of inheritance. TPT is a feature of a number of specific syndromes. In this setting it may be associated with radial hypoplasia, bone marrow dysfunction, congenital heart disease, lung hypoplasia or agenesis, anorectal malformations, sensorineural hearing loss, onychodystrophy, mental retardation, and other disorders. TPT serves as a useful marker in such patients; in conjunction with the clinical and radiological findings, it can help to establish the correct diagnosis, leading to appropriate management and genetic counselling.
Topics: Abnormalities, Multiple; Deafness; Female; Fingers; Foot Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Nails, Malformed; Syndrome; Thumb
PubMed: 3050097
DOI: 10.1136/jmg.25.8.505 -
Cureus Mar 2022Background Anorectal malformations are congenital defects wherein there is defective development of the anus and rectum. For babies born with congenital anorectal...
Background Anorectal malformations are congenital defects wherein there is defective development of the anus and rectum. For babies born with congenital anorectal malformations, prompt treatment is crucial which requires detection of the anomalies at the earliest. This study aimed to determine the epidemiology ofanorectal malformations in the Pediatric Unit of a tertiary care hospital in Pakistan over a period of 19 months. Methodology An analytical cross-sectional study was conducted retrospectively from January 2020 to September 2021 using a non-randomized consecutive sampling technique. Patients aged less than eight years were included, whereas burnt, torn, and incomplete records from the Hospital Management Information System (HMIS) were excluded. SPSS version 26 (IBM Corp., Armonk, NY, USA) was used for data entry and analysis. Binomial and multinomial logistic regression were applied for analyzing the association between explanatory and dependent variables. Results Of the 1,108 patients, 72 (6.5%) patients had anorectal malformations. Gastrointestinal diseases made up about 64.3% of all diseases. Among gastrointestinal causes, the prevalence of anorectal malformation was up to 10.1%. The mortality of anorectal malformation patients was low (2.85%) compared to mortalities due to other gastrointestinal abnormalities (8.25%). Anorectal malformation had significantly lower odds of mortality (adjusted odds ratio = 0.19, p < 0.05) compared to other gastrointestinal abnormalities. Conclusions This study has provided data about the prevalence of anorectal malformation and its mortality which were calculated as 6.5% and 2.58%, respectively. Female gender, neonates, and delayed presentation were seen to have higher mortality, highlighting the need to screen all neonates pre- and post-natally to avoid any misdiagnosis.
PubMed: 35425683
DOI: 10.7759/cureus.23136 -
The Pan African Medical Journal 2021anorectal malformation is a multi-systemic birth defect of the distal gastrointestinal tract, the management of which is challenging to the surgeons, the patients and...
INTRODUCTION
anorectal malformation is a multi-systemic birth defect of the distal gastrointestinal tract, the management of which is challenging to the surgeons, the patients and the parents. The presence of associated congenital malformations may worsen the outcome with consequent psychosocial effects on the patients and the parents. The characteristics of anorectal malformations with the challenges associated with their management and the outcomes are therefore presented here.
METHODS
all patients managed for anorectal malformations from January 2003 to December 2017 were studied. Patients´ demography, clinical presentations, types of malformations, associated anomalies, procedures performed, post-operative complications and management outcome were obtained and analysed.
RESULTS
eighty-eight children with anorectal malformations comprising 61 (69.3%) boys and 27 (30.7%) girls were studied with 76 (86.3%) patients presenting within the first year of life. Low anorectal malformation was observed in 14 (15.9%) patients, 71 (80.7%) patients had intermediate or high malformations and cloacal malformation was present in 3 (3.4%) patients. Associated congenital malformations were observed in 18 (20.5%) patients with 10 (55.6%) patients associated with intermediate or high malformations and urogenital system was the most common system whose anomalies were associated with anorectal malformations in 12 (13.6%) patients. Anoplasty was performed on 14 (15.9%) patients, posterior sagittal anorectoplasty was performed on 67 (76.1%) patients, abdominosacroperineal pull through on 4 (4.6%) patients and posterior sagittal anorectovaginourethroplasty on 3 (3.4%) patients. Six (6.8%) neonates died.
CONCLUSION
immediate post-operative outcome was good; however, good functional outcome can only be assessed in an atmosphere of good follow-up which is still a problem in our environment.
Topics: Anorectal Malformations; Child; Child, Preschool; Digestive System Surgical Procedures; Female; Humans; Infant; Infant, Newborn; Male; Nigeria; Postoperative Complications; Plastic Surgery Procedures; Treatment Outcome
PubMed: 34046120
DOI: 10.11604/pamj.2021.38.214.21690 -
Pediatric Gastroenterology, Hepatology... Jul 2022The treatment and long term clinical outcomes of anorectal malformations (ARM) in children have always been the focus of pediatric surgeons. This study aimed at...
PURPOSE
The treatment and long term clinical outcomes of anorectal malformations (ARM) in children have always been the focus of pediatric surgeons. This study aimed at reporting our experience as far as long-term follow-up of ARM in children is concern.
METHODS
We enrolled patients treated between 1999 and 2019, and established selection criteria to choose appropriate subjects. A validated questionnaire was used to determine long-term quality of life outcomes.
RESULTS
Out of a total of 48 patients treated within the study period, 28 were enrolled in this study. Among the latter, more than 35% had at least one long-time complication, and more than 90% had a good lifestyle. Urinary and fecal continence was achieved in more than 95% of the patients using medical devices.
CONCLUSION
This study aimed to bring up new concepts; taking into consideration all aspects of life in patients with ARM, from school life to sexuality, while evaluating fecal and urinary continence. This is essential for the improvement of the skills of the different specialists involved in the management of these patients, and for the implementation of strategies that can improve postoperative function. Most especially, it will also help improve communication between doctors to ensure an adequate transition of these children into adult life.
PubMed: 35903487
DOI: 10.5223/pghn.2022.25.4.340 -
Children (Basel, Switzerland) May 2023Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to... (Review)
Review
Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to a bowel management program. We aim to report the recent updates in evaluating and managing these patients as part of the manuscript series on the current bowel management protocols for patients with colorectal diseases (ARMs, Hirschsprung disease, functional constipation, and spinal anomalies). The unique anatomic features of ARM patients, such as maldeveloped sphincter complex, impaired anal sensation, and associated spine and sacrum anomalies, indicate their bowel management plan. The evaluation includes an examination under anesthesia and a contrast study to exclude anatomic causes of poor bowel function. The potential for bowel control is discussed with the families based on the ARM index calculated from the quality of the spine and sacrum. The bowel management options include laxatives, rectal enemas, transanal irrigations, and antegrade continence enemas. In ARM patients, stool softeners should be avoided as they can worsen soiling.
PubMed: 37238394
DOI: 10.3390/children10050846