Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.
Anal Canal ; abnormalities ; Anorectal Malformations ; Anus, Imperforate ; Female ; Humans ; Pregnancy ; Rectum ; abnormalities

Congenital anorectal malformation(CAM) is one of the most common colorectal diseases in children. Anoplasty has been the only treatment. Because of the fact that anorectal malformation is constantly complicated with congenital defect in the nerve and musculature, postoperative difficulty in defecation is common. Poor long-term quality of life of these affected children is a burden to the children, family, and society. With the advance of modern medicine, emphasizing the functional recovery after anatomical reconstruction of anorectum and conduction of individualized biofeedback training program to improve the defecatory function and long-term quality of life are the new treatment concepts and important progress. Novel methods for the prevention and treatment of CAM are still under exploration.
Anorectal Malformations ; Anus, Imperforate ; surgery ; Child ; China ; Digestive System Surgical Procedures ; Fecal Incontinence ; surgery ; Humans

OBJECTIVE: To investigate the morbidity of congenital heart defects(CHDs) in children with anorectal malformation, and to summarize appropriate treatment. METHODS: The clinical data and echocardiographic findings of 155 children with congenital anorectal malformations from the Third Affiliated Hospital of Zhengzhou University during January 2016 and October 2019 were reviewed. According to the surgical findings of anorectal malformations, the patients were categorized as the high/intermediate group and the low group; the CHDs were classified as minor CHDs and major CHDs. Multiple logistic regression was used to analyze the correlation of wingspread classification, and extracardiac malformations with the severity of CHDs. RESULTS: Out of 155 children with anorectal malformations, 47 (30.3%) had different types of cardiac structural malformations, including 18 cases of minor CHDs (11.6%) and 29 cases of major CHDs (18.7%). Sixty children (38.7%) had extracardiac malformations, of which 38 cases (24.5%) had a single extracardiac malformation, 15 cases (9.7%) had multiple extracardiac malformations, 6 had trisomy 21 syndrome, and 1 had VATER syndrome. Multivariate logistic regression analysis showed that wingspread classification of anorectal malformation and extracardiac disorders were independent risk factors for major CHDs. The probability of major CHDs in children with high/intermediate anorectal malformation was 4.709 times higher than that with low anorectal malformation ( CONCLUSIONS The morbidity of major CHDs is higher in severe cases with high/intermediate anorectal malformation and acute cases without fistula or with obstructed fistula and cases with multiple congenital disorders. Echocardiography can define the type and severity of CHDs, which are useful to develop the optimal diagnosis and treatment plan for children with anorectal malformation.
Abnormalities, Multiple ; Anorectal Malformations/therapy* ; Child ; Heart Defects, Congenital/mortality* ; Humans ; Retrospective Studies

Anal Canal/surgery* ; Anorectal Malformations ; Constriction ; Fecal Incontinence ; Humans ; Rectal Prolapse

OBJECTIVETo explore the relationship between exon 3 mutation in the methyl CpG-binding protein 2 (MeCP2-E3) gene and Hirschsprung disease (HSCR) and anorectal malformations (ARMs).

METHODSPCR and DNA sequencing were used to detect the mutation of MeCP2-E3 in 120 healthy controls, 120 HSCR, and 50 ARMs.

RESULTSOn sequencing, 45(37.5%) children with HSCR had basic replacement in MeCP2-E3, 12(10.0%) of them were homozygous mutation. Fourteen(28.0%) children with ARMs had basic replacement in MeCP2-E3, 4(8%) of them were homozygous mutation. There were no mutation in the control group.

CONCLUSIONSMutation of MeCP2-E3 is present in the peripheral blood of children with HSCR or ARMs, which may contribute to the development of Hirschsprung disease or anorectal malformations.

Anorectal Malformations ; Anus, Imperforate ; genetics ; Case-Control Studies ; Child, Preschool ; Exons ; Female ; Hirschsprung Disease ; genetics ; Humans ; Male ; Methyl-CpG-Binding Protein 2 ; genetics ; Mutation ; Phenotype

Adult presentation of a rectocutaneous fistula with imperforate anus is rare. We report the case of a 22-year-old man who presented with an anorectal malformation and a rectocutaneous fistula. The patient complained of faecal matter passing through the external orifis of a fistula located at the distal part of his scrotum. He was continent for solid faeces, but had leakage of flatus and faecal soiling. He had no other associated anomaly. The patient subsequently underwent a surgical procedure where anal transposition was done. Postoperative recovery was uneventful, and the patient was fully continent at control examination.
Anal Canal ; abnormalities ; Anorectal Malformations ; Anus, Imperforate ; diagnosis ; surgery ; Digestive System Surgical Procedures ; Humans ; Male ; Rectal Fistula ; diagnosis ; surgery ; Scrotum ; surgery ; Young Adult

INTRODUCTIONAnorectal malformations (ARMs) and low-lying spinal cord (LLC) are commonly associated owing to their common embryonic origin. LLC may lead to tethered cord syndromes (TCS), requiring surgery. This study aimed to review the incidence of LLC in children with ARMs using ultrasonography (US) and magnetic resonance (MR) imaging, the incidence of TCS and the surgical outcomes of these patients after detethering.

METHODSWe conducted a retrospective study of children who underwent surgery for ARMs in 2002-2009 at KK Women's and Children's Hospital, Singapore.

RESULTSOut of 101 (16.8%) ARM patients, 17 had LLC, of which 12 (70.6%) were high ARMs. 12 of the 17 (70.6%) patients had abnormal US and MR imaging findings. Five (29.4%) had normal US but abnormal MR imaging results; in these five patients, MR imaging was performed due to new symptoms and equivocal US findings. These 17 patients subsequently underwent surgical detethering. Three out of seven patients with TCS improved after surgery. None of the 17 patients had any complications.

CONCLUSIONLLC appeared to be associated with high ARMs, although this was not statistically significant. LLC should be investigated for whenever ARM is diagnosed, regardless of its type. Lumbar US is useful for first-line screening for LLC. Abnormal US or onset of new symptoms should subsequently be investigated with MR imaging. Equivocal US findings are also likely to benefit from further MR imaging. Surgery to detether LLC can improve outcome in TCS, while prophylactic detethering for asymptomatic patients with lipoma of the filum terminale has very low surgical risk.

Anorectal Malformations ; Anus, Imperforate ; epidemiology ; surgery ; Female ; Humans ; Incidence ; Infant ; Lumbar Vertebrae ; Magnetic Resonance Imaging ; Male ; Neural Tube Defects ; diagnosis ; diagnostic imaging ; epidemiology ; surgery ; Neurosurgical Procedures ; adverse effects ; Retrospective Studies ; Sensitivity and Specificity ; Singapore ; epidemiology ; Treatment Outcome ; Ultrasonography

Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis.
Abnormalities, Multiple ; diagnosis ; Anal Canal ; abnormalities ; surgery ; Anorectal Malformations ; Anus, Imperforate ; complications ; diagnosis ; surgery ; Child ; Diagnosis, Differential ; Esophagus ; abnormalities ; Female ; Heart Defects, Congenital ; complications ; Humans ; Infant, Newborn ; Kidney ; abnormalities ; Laparoscopy ; Limb Deformities, Congenital ; complications ; Mullerian Ducts ; abnormalities ; Rectal Fistula ; diagnosis ; Rectum ; abnormalities ; surgery ; Spine ; abnormalities ; Trachea ; abnormalities ; Vagina ; abnormalities