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Anorectal malformations consist of a wide spectrum of conditions which can affect both sexes and involve the distal anus and rectum as well as the urinary and genital tracts. Patients have the best chance of a good functional outcome if the condition is diagnosed early and efficient anatomic repair is promptly instituted. This report describes a rare case of imperforate anus associated with both rectovaginal and rectocutaneous fistulas in a 6-year-old Filipino girl. The case highlights shortcomings in the healthcare delivery system combined with socio-economic factors that contributed to the delay in both diagnosis and the institution of adequate treatment. Care and preventive measures that can be implemented in low-resource settings to reduce the impact of birth defects are also discussed., (2015 BMJ Publishing Group Ltd.)

Johanson-Blizzard Syndrome (JBS) (MIM #243800) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, abnormal facial appearance and varying degrees of mental retardation. Mutations in UBR1 gene (MIM *605981) are considered to be responsible for the syndrome. Here, we report a 3 year-old mentally normal JBS girl. The patient presented with exocrine pancreatic insufficiency as well as failure-to-thrive. On dysmorphological examination, she was noted to have an abnormal hair pattern with frontal upsweep and alae nasi hypoplasia. With these findings, JBS diagnosis was established clinically. Molecular analysis of the UBR1 gene revealed two inherited novel mutations; one coming from each parent. These novel mutations were c. 1280T>G and c. 2432+5G>C, and they were found to be disease causing via in-silico analysis. In conclusion, for patients with longstanding exocrine pancreatic insufficiency, it should be considered as being symptomatic of a far broader picture. To omit connection with rare genetic diseases, such as Johanson-Blizzard Syndrome, a detailed dysmorphological examination ought to be performed., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Purpose: The aim of this study was to compare the frequency and nature of VACTERL associations between children who underwent surgery for esophageal atresia/tracheoesophageal fistula (EA/TEF) and anorectal malformation (ARM)., Methods: We identified all children who underwent surgery for EA/TEF and/or ARM at hospitals participating in the Pediatric Health Information System (PHIS) database between 2004 and 2012. PHIS is an administrative database of free-standing children's hospitals managed by the Child Health Corporation of America (Overland Park, KS) that contains patient-level care data from 43 hospitals. The complete records of patients in this cohort were cross-referenced for diagnoses of vertebral, cardiac, renal and limb anomalies., Results: 2689 children underwent repair of esophageal atresia. Mean gestational age was 36.5±3.2weeks and mean birth weight was 2536.0±758.7g. Associated VACTERL diagnoses included vertebral anomaly in 686 (25.5%), ARM in 312 (11.6%), congenital heart disease in 1588 (59.1%), renal disease in 587 (21.8%) and limb defect in 192 (7.1%). 899 (33.4%) had 3 or more anomalies and met criteria for a VACTERL diagnosis. 4962 children underwent repair of ARM. Mean gestational age was 37.4±2.7weeks and mean birth weight was 2895.2±765.1g. Associated VACTERL diagnoses included vertebral anomaly in 1562 (31.5%), congenital heart disease in 2007 (40.4%), EA/TEF in 348 (7.0%), renal disease in 1723 (34.7%) and limb defect in 359 (7.2%). 1795 (36.2%) had 3 or more anomalies and met criteria for a VACTERL diagnosis., Conclusion: VACTERL associations are relatively common in children with EA/TEF and ARM and occur in specific clusters, with cardiac disease more common in EA/TEF and spinal and renal/urinary anomalies more common in ARM., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Purpose: Anterior anus (AA) is a low type of anorectal malformation that is seen exclusively in females, characterized by an essentially normal appearing anus in an abnormally anterior position. In AA, the anal canal is located mostly within the voluntary sphincter complex, differentiating it from a perineal fistula in females, and allowing for a nonoperative approach to management. This study aimed to characterize the controlled, long-term bowel functional outcomes and lower urinary tract symptoms (LUTS) in females with conservatively treated anterior anus., Methods: A single-institution, cross-sectional study. All females treated conservatively for AA between 1983 and 2006 were invited to answer a postal questionnaire on bowel function and lower urinary tract symptoms. Each patient was matched by age and gender to 3 controls that had answered the same questionnaire. Ethical approval was obtained., Results: Among 45 respondents (67%; median age 10.2 (4-20) years), fecal continence was comparable to controls overall (p=NS). Constipation affected a significantly higher proportion patients (36%) than controls (13%; p=0.002) and tended to decline with age. Outcomes by bowel function score were good/normal in 93%, satisfactory in 7% and poor in none. Lower urinary tract symptoms and age at toilet training were comparable to controls (p=NS)., Conclusions: Up to adulthood, long-term bowel functional outcomes comparable to matched peers can be achieved in nearly all of females with AA with conservative management alone, provided that effective control of constipation is achieved. The prevalence of LUTS is comparable to controls, and toilet training can be expected to occur at the normal age., (Copyright © 2015 Elsevier Inc. All rights reserved.)

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.

Background: Patients born with anorectal malformations (ARM) frequently have other congenital anomalies that are well-defined; however, limited data exist examining the relationship of ARM with malrotation., Methods: A 10-year retrospective review was performed to examine all patients treated at a regional children's medical center with a diagnosis of ARM. Data were collected to identify malrotation, vertebral, anorectal, cardiac, tracheo-esophageal fistula, renal, radial, limb (VACTERL) anomalies, the type of ARM, operative procedures performed, and long-term bowel management., Results: One hundred forty-six patients were identified. Upper gastrointestinal evaluation was performed in 21 patients (14.4%), while contrast enemas were performed in 22 patients (15.1%). Seven patients were found to have malrotation (4.8%) and 6/7 of these patients had 2 or more VACTERL anomalies., Conclusions: Patients with ARM and 2 or more VACTERL anomalies should undergo screening for malrotation. Patients with intestinal malrotation, ARM, and poor potential for bowel control should have their appendix preserved during a Ladd's procedure., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister-Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long-term outcome. The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C>T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan-hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister-Hall syndrome., (© 2015 Wiley Periodicals, Inc.)

Background: The association of vaginal atresia (or Mayer-Rokitansky-Kuster-Hauser Syndrome) with imperforate anus is rare and can present significant diagnostic and therapeutic challenges. This study describes clinical characteristics, surgical treatment and outcomes in this group of complex children., Methods: Records of 20 patients were retrospectively analyzed from two pediatric surgical centers., Results: Five patients were excluded from the long-term analysis due to inadequate information, leaving long-term follow-up in 15 patients. Mean follow-up was 10 years (range 1-31.1 years). The diagnosis of vaginal atresia was made pre-operatively in 12 out of 15 patients, and in three patients it was identified during the anoplasty. The anorectal malformations were rectoperineal (N=2), rectovestibular (N=6), recto-bladder neck (N=1) and imperforate anus without fistula (N=6). Satisfactory surgical repair was performed in 13 patients, while one continues to stool through a low perineal fistula awaiting definitive surgery and another underwent a colostomy and mucous fistula. Delayed vaginal reconstruction was due to a failure to identify the problem prior to anoplasty (N=3). Long-term results demonstrated that anorectal continence was much worse than initially appreciated, and many had associated urinary incontinence. Overall stooling score was far lower than in a separate group of children with imperforate anus without vaginal atresia (Levitt and Peña, 2007)., Conclusions: Vaginal atresia with imperforate anus is a rare and an extensive pre-operative workup of females with imperforate anus must include assessment of vagina patency. Vaginal reconstruction and anorectal continuity can be performed in a variety of approaches, but long-term continence is often not optimal. We propose a pathway for management of this difficult genito-anorectal disorder., (Copyright © 2015 Elsevier Inc. All rights reserved.)

The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Peña, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size <5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size >5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (<2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Peña have been introduced in order to refine terminology and establish a comprehensive preoperative workup.

Objective: The aim of this study is to determine the consequences of delayed presentation of anorectal malformations and emphasize the causes of delayed diagnosis of these malformations., Methods: We retrospectively reviewed 54 neonatal patients with a diagnosis of anorectal malformations. Group 1 consisted of 35 patients diagnosed within the first 48 h of life and Group 2 included 19 patients diagnosed after 48 h of life., Results: Obstructive symptoms at the time of diagnosis, overall complications and the mean postoperative hospitalization period in Group 2 were markedly higher than that of Group 1. A comprehensive neonatal examination within the first 48 h of life was performed in 32 (91.4%) patients in Group 1 and 5 (26.3%) of the patients in Group 2 (p < 0.001)., Conclusions: The passage of meconium is not the only sign of correctly positioned anus. A careful physical examination and awareness of this anomaly are of great importance in making a timely diagnosis of anorectal malformations.

A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation., (© ISFM and AAFP 2014.)

Unlabelled: Objectives: To describe the anatomical sub-types of Anorectal malformations, their management and the early outcome at Moi Teaching and Referral Hospital (MTRH) over a 16 month period. Design: A prospective study., Setting: MTRH, in the neonatal Unit and paediatric surgical wards for theinitial capture of patients and initial follow up. The Paediatric Surgical out-patient clinic was used for the subsequent follow ups., Subjects: All infants diagnosed with ARM (Anorectal malformations) at MTRH from November 2011 to April 2013., Main Outcome Measures: Sub-types of the Anorectal malformations, coexisting abnormalities morbidity and mortality rates., Results: There were 42 participants including 24 (57%) males and 18 (43%) females. Neonates presented at an average age of 4 ± 3, three days and older children presented on average age of 152 ± 118, three days. There were 30 (71%) neonates and 12 (29%) older infants. In males, the predominant sub-type was imperforate anus without a fistula found in ten participants (42% of males). In females, the predominant sub-type was recto-vestibular fistula found in 14 participants (78% of females). Mortality occurred in 13 (31%) participants among them ten (24%) had coexisting abnormalities. The main causes of morbidity were: colostomy complications in four (9.5%); wound,infections in one (5%); and wound dehiscence in one (5%)., Conclusions: Patients with Anorectal malformations presented late at MTRH. The diagnosis at birth was missed in babies born at home as well as those delivered in health institutions.

Rectal atresia or stenosis is an extremely rare anorectal malformation associating a normal anal canal with a stricture or a complete rectal atresia. We describe a case of rectal atresia in a newborn female presenting with an abdominal distension and failure of passing meconium.

Branchial cleft cysts, sinuses, and fistulas are the most common congenital lateral neck lesions in children. They arise as a result of an abnormal development of the branchial arches and their corresponding ectoderm-lined branchial clefts. Of these diverse anomalies, second branchial cleft lesions are the most common, accounting for approximately 95% of all branchial arch pathologies. We describe what is to the best of our knowledge the first reported case of an ectopic tooth in a branchial cleft anomaly. The patient was a young girl who had other congenital abnormalities and syndromic features and who was eventually diagnosed with Townes-Brocks syndrome. We describe the clinical presentation, management, pathologic analysis, and postoperative outcomes of this case, and we present a brief review of Townes-Brocks syndrome.

Introduction: Anorectal malformations (ARMs) without fistula occur in approximately 5 % of all cases of ARM. The high frequency of Trisomy 21 associated to this type of malformation has been previously described. A review of the literature revealed only one previous publication discussing ARM without fistula with or without Trisomy 21; all other publications focused their discussion in patients with Trisomy 21. We felt that ARM without fistula has very specific characteristics and therapeutic implications that deserved a special discussion, which prompted us to review our experience., Methods: A retrospective review of the medical records of patients with ARM without fistula was performed between September 1980 and March 2014. From a series of 2,189 cases of ARMs, 92 had no fistula identified. Information related to demographic, anatomic, and prognostic factors, as well as outcome variables was obtained and compared to those results obtained from other types of ARMs., Results: Seventy-six patients were males and 16 females. Thirty-seven patients (40 %) had Trisomy 21. Eighty-six patients were primarily operated on and six had a reoperation after a failed attempted repair at another institution. Of the six patients that were reoperated, five had an attempted repair in the newborn period without a colostomy and the operation was aborted after the rectum could not be found. The location of the blind rectum was at the level of the bulbar urethra in males or 1-2 cm from the perineal skin in females in 80 patients; and in 9 patients it was found at the level of the prostatic urethra. In five patients, during the repair, there was an incidental opening of the urethra, which was repaired with uneventful recovery. The sacrum was normal in 61 patients; 4 patients had a sacral ratio <0.4, which indicated poor prognosis for fecal continence. Sixty-four patients had normal urinary tract, four patients had an absent kidney, ten had bilateral hydronephrosis, and three unilateral. Long-term outcomes related to bowel control were available in 52 cases: 11 of 18 patients with Trisomy 21(61 %) had voluntary bowel movements and 29 of 34 (85 %) without Trisomy 21 had voluntary bowel movements. All patients without Trisomy 21 had urinary control., Conclusion: Anorectal malformation without fistula is a unique defect. In our series, it occurs in 4 % of all ARMs. Even when patients do not have a fistula, the operation is not technically easier due to the presence of an extensive common wall between the rectum and urethra in males or vagina in females. The ARM with no fistula has a good reasonable functional prognosis, even in patients with associated Trisomy 21 and conveys a low frequency of associated urologic defects.

Purpose: Even if lumbar magnetic resonance imaging (MRI) is considered the gold standard in the diagnosis of occult spinal dysraphism (SD) in patients with anorectal malformations (ARMs), spinal ultrasound (US) performed up to 5 months of life have been largely used as a screening test. The aim of the present study was to evaluate the accuracy in terms of sensibility and specificity of neonatal US to detect occult SD in patients with ARMs., Methods: Retrospective analysis of all patients treated for ARMs between 1999 and 2013 at our institution who underwent both spinal US (up to 5 months of life) and MRI. Sensibility and specificity have been calculated for US based on MRI results., Results: Of 244 patients treated for ARMs at our institution, 82 (34 females, 48 males) underwent both the imaging studies and have been included in this study. ARMs types were: anal stenosis (7), recto-vestibular fistula (19), recto-perineal fistula (3) and cloaca (5) in female and imperforate anus (7) recto-perineal fistula (14), recto-urethral fistula (22), recto-vesical fistula (5) in males. Forty-seven patients (57, 3 % of total, 18 females, 29 males) had some occult SD (tethered spinal cord, spinal lipoma, syringomyelia) at MRI. Only 7 (14, 8 %) patients of those with spinal anomalies at MRI had pathological US studies. In our population, sensibility and specificity of US for diagnosis of occult SD were, respectively, 14, 8 and 100 %., Conclusion: Since it is well known that a screening test must have a high sensibility, our data suggest that spinal ultrasound is not suitable as a screening test for occult spinal dysraphism in patients with ARMs. Furthermore, we strongly advise against the use of US as a screening test for spinal dysraphism to prevent a false sense of security in physician and patients' families.

We describe a monozygotic twin discordant for VATER association with single dysplastic kidney and cloacal anomaly, who had no pulmonary hypoplasia. This twin probably had little or no urine output in utero, but still had normal lung development due to production of adequate amniotic fluid by the healthy twin preventing pulmonary hypoplasia. The discordance between monozygotic twins for VATER association indicates that factors other than inherited genetic ones may have a role in the causation of this association.

Context: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early growth failure. Most patients are diagnosed by clinical criteria prenatally or in early infancy. Nonsense, frame shift and splice-site mutations of the ubiquitin ligase gene (UBR1) lead to early loss of acinar cells in individuals with JBS., Case Report: We describe a previously asymptomatic patient with ectodermal dysplasia presenting with sudden onset exocrine pancreatic insufficiency in adolescence. The family reports an identical twin brother with similar symptoms., Conclusion: This case illustrates that the phenotypic variability of pancreatic involvement in JBS may be subtle and may not manifest until the second decade of life. We suspect that this mild phenotype results from mutations in UBR1 allowing for partial function.

According to multiple researchers and studies, congenital heart disease (CHD) occurs in approximately 4.8-12.0 of 1,000 live births in the general population, and 2.4 per 1,000 cases are serious enough to require surgery or cardiac catheterization in the first year of life.1 Historically, it has been assumed that the earlier the gestational age with CHD, the poorer the outcome; however, with continued improvements in neonatal care, this hypothesis should be looked at more closely. This case illustrates the challenges associated with prematurity, complex cardiac defects, intraventricular hemorrhage (IVH), and other congenital anomalies that increase the risk of infection and/or surgical intervention. It will discuss the hospital course of a twin, born at 27 weeks gestation, who was found to have all of these diagnoses, yet, despite the complexity of his case, he had a predominantly uncomplicated hospital course.

Introduction: the perineal groove is a very uncommon anorectal anomaly. It is the result of an unknown embryology anomaly. The perineal groove is a wet sulcus extending from de fourchette to the anus. It is a benign pathology and tends to resolve spontaneously., Objective: We report two cases of girls diagnosed with perineal groove and their follow up., Cases Reports: The first case is an 18 days old baby girl, that during her first clinical examination there was found a painless lineal lesion in the perineum from the fourchette to the anus, which created a big anxiety in her family. She was cared at the Pediatric Gynecology Unit, with local lubrication, doing well with the epithelization of it. The second case is an 8 year-old girl who consulted because, when being a child, she was diagnosed with a perineal lesion, but she didn't receive any special treatment and now she feels some aches in the perineum., Conclusions: The perineal groove is a benign entity pretty unknown by general practitioners or pediatricians. It is important to be up to date with this condition to avoid alarming misinterpretations.

Cloacal exstrophy (CE) is a rare congenital disorder with a number of significant associated anomalies. Fetal ultrasound has been used to identify CE; however, accurate diagnosis is challenging. Recently, magnetic resonance imaging has been reported to improve prenatal diagnosis and better characterize the associated defects. We report a case of CE accurately diagnosed using magnetic resonance imaging after fetal ultrasound was nondiagnostic and review the literature comparing the use of each modality., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Objective: Cloacal exstrophy is an exceedingly rare and complex anomaly. The records of 23 patients treated in a tertiary care center with limited infrastructure were analyzed for anatomic types, associated anomalies, surgical procedures adopted, and the outcome., Materials and Methods: There were 14 males. Seventeen babies were preterm with an average weight of 1.92 kg. The time of presentation, gestational age, birth weight, position of the hemibladders and associated malformations were noted. Reconstruction procedures involved dismantling of the hemibladders and primary turn in, tubularization of the bowel with an end colostomy, and reconstruction of the abdominal wall. Results of the primary surgical repair, bowel function, and outcome of secondary procedures were analyzed., Results: The position of hemibladders was lateral in 11, upper confluent in 4 and lower confluent in 8. Associated anomalies were noted in 19 patients. Four patients presented late (>5 days). Five died preoperatively, all had major associated anomalies. Four of them were preterm with average weight of 1.4 kg. Two patients refused surgery. Single-stage surgical reconstruction was done in 15 patients. Five patients died postoperatively because of associated anomalies, prematurity, and sepsis. One patient is waiting for surgery. Six patients had follow-up at 3-42 months and are awaiting further reconstruction. Four patients were lost to follow-up., Conclusions: Prematurity, late presentation, and sepsis are the major causes of high mortality noted in this series. In our experience, single-stage reconstruction without osteotomy gives satisfactory results., (Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Objective: Faecal incontinence secondary to myelomeningocele, Hirschsprung disease, and anorectal anomalies remains a significant and common problem. We aimed to report our 5-year experience with the Peristeen trans-anal irrigation system (TAIS) to manage such children., Patients and Method: This study was a combination of a retrospective case note review and assessment using a validated quality of life questionnaire (QOL) to determine pre- and post-TAIS bowel function and continence. QOL scores and functional outcomes before and during TAIS use were compared using Wilcoxon matched pairs test (p < 0.05 significant)., Results: Twenty-four children (median age 6 years) were managed with the TAIS 2006-2011 to treat faecal incontinence. Three did not tolerate the system. Median QOL scores in 20 out of 21 patients using TAIS demonstrated significant improvement in bowel management and continence. Two discontinued use due to failure to improve continence; one underwent the Malone antegrade continence enema (MACE) procedure and one returned to oral/rectal medications. Nineteen of 24 patients (79%) continue to use TAIS., Conclusions: The Peristeen TAIS is an effective, safe, non-operative alternative to MACE in children with faecal incontinence, if initial compliance can be achieved., (Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)

Purpose: Children with anorectal malformation or Hirschsprung's Disease (HD) often have functional problems with constipation or incontinence. The Hirschsprung's Disease/Anorectal malformation Quality of life Questionnaire (HAQL) developed in the Netherlands is a disease-specific instrument measuring the quality of life (QoL) of children and adolescents with fecal incontinence. HAQL includes several domains with questions concerning diet, laxatives, constipation, diarrhea, urine and fecal incontinence, in addition to social and emotional functioning, body image, and physical symptoms. The purpose of the study was to translate and culturally adapt the HAQL questionnaire into Swedish., Method: The translation was carried out according to accepted translation guidelines and a backward/forward translation method was used., Results: The translation correlated well with the original. All in all the Swedish and the Dutch versions agreed well. The Swedish translators chose to use a more simplified language in the questionnaires intended for the children, but used another choice of words in the proxy version and the adolescents' version., Conclusions: The translation of the HAQL instrument into Swedish gives us a disease-specific QoL instrument for children and adolescents born with HD and anorectal malformations (ARM). The translated and culturally adapted HAQL instrument is included in a survey regarding children and adolescents born with ARM.

Background: Colorectal surgery is a budding subspecialty of paediatric surgery and typifies the advances in the management of surgical conditions in children. The colorectal burden in resource poor settings, though reported to be challenging, remains undocumented. The aim of the present study was to review the typical operative paediatric colorectal caseload in a single centre in sub-Saharan Africa., Materials and Methods: A retrospective review of the operative records of the division was conducted between 2009 and 2013. Data were obtained on the demography, diagnosis, procedure performed and type of anaesthesia used; entered into a computer using SPSS (IBM Corp; Armonk, NY) and analysed., Results: A total of 120 colorectal operations were performed in 90 patients with age ranging from 1 to 13 years. The major diagnoses were anorectal malformations (64.4%) and Hirschsprung disease (HD) (31.1%). The most often performed operations were colostomy (45.0%), posterior sagittal anorectoplasty (17.5%) and pull through (17.5%). The number of colorectal operations performed each year ranged from 12 in 2009 to 36 in 2012. A higher proportion of patients with anorectal malformations (46.6%) presented within the neonatal period compared with those with HD (17.9%), P = 0.005. The age at definitive surgery was less in patients with anorectal malformations compared to patients with HD (P = 0.003)., Conclusions: Congenital malformations represent the bulk of the caseload in paediatric colorectal surgery in sub-Saharan Africa and patients typically present late; although patients with anorectal malformations present and are operated upon significantly earlier than those with HD.

Aim: The aim of this study was to investigate the difference in anxiety and quality of life (QOL) between mothers and fathers of children with anorectal malformations (ARM) or Hirschsprung disease (HD). In addition, anxiety of parents of newborns was compared with parents of children in the age-group of 10 to 13 years., Methods: Parents of 44 patients with ARM or HD completed the World Health Organization Quality of Life (WHOQOL)-BREF (26 items) and the Spielberger State-Trait Anxiety Inventory (STAI-trait 10 items, STAI-state 6 items). They were divided into two groups according to their children's age (0-4 years and 10-13 years)., Results: Overall mothers scored significantly worse than fathers on state anxiety (p = 0.005). Trait anxiety was not significantly different between mothers and fathers. The psychological domain of the WHOQOL-BREF was significantly different between parents (p = 0.016), with mothers scoring worse. Dividing the group in newborns and school going children mothers of newborns showed significantly more state anxiety compared with fathers of newborns (p = 0.016). In the group of older children, both anxiety and QOL were not significantly different between fathers and mothers. Comparing mothers of newborns with mothers of older children, the first group scored higher on state anxiety, but this difference was not significant (p = 0.138; 95% confidence interval, 0.535-3.717)., Conclusions: Mothers of newborns have a higher level of anxiety than fathers of newborns with ARM or HD. When children with ARM or HD become older, this difference in anxiety between parents is not significant anymore. This may be explained by coping strategies., (Georg Thieme Verlag KG Stuttgart · New York.)

Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor. We described a patient with a 1.4 Mb duplication at 17q12 detected by SNP-array study and validated using qRT-PCR, who presented with an oesophageal atresia accompanied with tracheoesophageal fistula and anal atresia as well as other symptoms resembling VATER association (thumb hypoplasia, sacral bone defect, cryptorchidism). Genomic rearrangements of chromosome 17q12 are associated with a variety of clinical phenotypes. Only few cases with OA patients with the duplication in 17q12 have been reported. The 17q12 region comprised 15 genes. We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Purpose: Given that a rectoperineal fistula is developmentally the most mature lesion in the spectrum of anorectal malformations, it is not clear whether it merits a complete VACTERL evaluation. We sought to determine if the same evaluation is required to rule out associated anomalies in newborns with rectoperineal fistula as those with more complex anorectal malformations., Methods: We performed a retrospective review of the pediatric colorectal center database at our tertiary care children's hospital from 2000 to 2012. Patients with anorectal malformations were categorized as rectoperineal fistula or "other" using the Krickenbeck classification. Records were reviewed to identify associated anomalies., Results: 308 patients (156 males) were treated at our institution during the time period (rectoperineal fistula=102). Thirty-five (34%) patients with a perineal fistula had at least one associated anomaly. The most common anomalies were cardiac lesions (29% excluding PFO and PDA), genitourinary (20.6%), and malformations of the spine (15.7%). The overall occurrence of anomalies was lower than the "other" group., Conclusion: Our review demonstrates that newborns with a rectoperineal fistula frequently have associated anomalies and should undergo an evaluation similar to more complex lesions. These findings illustrate the importance of a structured approach to the evaluation of even the most straightforward lesions., (© 2014.)

Johanson-Blizzard syndrome is a rare congenital autosomal recessive disease characterized by the association of congenital deficiency of the exocrine pancreatic function and multiple malformations. One of the most common manifestations of this pathology is sensorineural hearing loss of different severity and anomalous development of the inner ear. The case of cochlear implantation in the patient presenting with bilateral sensorineural deafness, congenital malformation of the inner ear, and stenosis of the internal auditory canal is reported.

Objective: To investigate the clinical value of MRI examination in congenital anorectal malformation (CARM)., Method: Forty-four cases with operatively proved anorectal malformation from May 2008 to May 2012 in the authors' hospital were reviewed. Of the 44 cases, 25 were males and 19 females, their age ranged from 1 day to 2 years. MRI was performed in all patients., Result: Of all 44 cases, 15 cases had high imperforate anus (34%), rectum blind end were above PC line, the distance of rectum blind end and anus nest was (29.12 ± 2.35) mm; 8 cases had median imperforate anus (18%), rectum blind ends were near PC line, the distance of rectum blind end and anus nest was (18.98 ± 2.21) mm; 21 cases had low imperforate anus (48%), rectum blind ends were below PC line, the distance of rectum blind end and anus nest was (7.54 ± 1.08) mm. Twenty-five cases with fistula in 44 cases were confirmed by rectal angiography and surgery, accounting for 57%. In 13 cases with fistula, the lesion could be clearly demonstrated on MRI, in the remaining 12 cases with fistula, the lesion could not be visualized clearly or no image development occurred on MRI. Of all 44 cases, 1 case had tethered cord with filum terminale lipoma, 1 case had tethered cord, 2 cases had syringomyelia, 1 case had right kidney agenesis, 1 case had hydrocele. In 44 cases of multi-planar MRI imaging could clearly show the perianal muscles developmental situation, 36 cases had perianal muscles dysplasia, amd showed levator ani muscle, puborectalis and anal sphincter asymmetry, muscle belly slim., Conclusion: MRI examination has a high clinical value in CARM diagnosis, can help accurately judge the anal atresia type, display the presence and running of most of the fistula, and diagnose perianal muscle development and other systems malformations, finally provide a reliable diagnostic basis for surgical program and prognostic assessment.

Johanson-Blizzard syndrome (JBS); (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (hepatitis and anemia) in a molecularly confirmed case of JBS.

Introduction: Delay in the presentation of babies with anorectal malformations (ARMs) to the pediatric surgeon accounts for a major cause of morbidity and mortality in developing countries. In countries lacking proper guidelines for screening and newborn physical examination, a lot of responsibility is placed on parents and caregivers; with mothers often being the first to note abnormalities in their babies. The aim of the study was to assess the awareness of mothers about ARM and their knowledge about normal or abnormal appearance of the anus., Materials and Methods: A descriptive cross-sectional study involving mothers attending immunization clinics at two hospitals in a developing country was conducted using a structured interviewer administered questionnaire. Data were obtained on sociodemographic characteristics, awareness of ARM, and knowledge of appearance of the anus by requesting mothers to identify if three pictures of the perineum were normal or abnormal., Results: A total of 365 mothers participated in the study with age ranging from 17 to 42 years. Only 71 (19.5%) mothers had ever heard about ARM. A picture of a girl with ARM and rectoperineal fistula was correctly identified by 66 (18.1%) and that of a boy with ARM and rectoperineal fistula by 71 (19.5%) mothers. A higher proportion (25.0%) of the mothers who were older than 30 years were aware of ARM than those younger than 30 years (16.0%), (p = 0.035). Participants with tertiary education were more likely to be aware of ARM than those with 12th grade or less education (31.1 vs. 6.9%, p < 0.001). Skilled workers were also more likely to be aware of ARM than unskilled workers and artisans (41.1 vs. 8.1%, p < 0.001). The predominant technique of "checking" the anus by the mothers was "inspection of their baby's perineum.", Conclusion: Level of awareness of ARMs was low among women interviewed. Educational intervention targeting young mothers from low socioeconomic class is suggested., (Georg Thieme Verlag KG Stuttgart · New York.)

Introduction: Covered cloacal exstrophy requires a high index of suspicion for its diagnosis. Low implantation of the umbilical cord, separated pubic bones, and anorectal malformation are the most common signs., Methods: Thirty-one patients with this defect were retrospectively analyzed., Results: Besides the anorectal malformation, the patients had important unique anatomic findings, including a colon shorter than 20 cm (17 patients) and absent bladderneck (27 patients). Twenty-four patients underwent a colonic pullthrough; of those, only 5 of them have voluntary bowel movements. Twelve patients underwent a urinary reconstruction. Eleven of them are dry with catheterization, and one leaks in between catheterization. Two patients are urinary continent., Conclusions: Covered exstrophy is a serious condition. Externally, the patients may look like having a rather simple malformation. However, the intra-abdominal findings are similar to those seen in cloacal exstrophy. An early correct diagnosis is important to plan a reconstructive strategy and to adjust the parent's expectations concerning bowel and urinary function. In addition to the traditional prognostic factors for bowel and urinary control (sacral ratio, tethered cord, and level of the rectum) these patients have other anatomic defects (absent bladderneck and short colon) that negatively affect the functional prognosis., (© 2013.)

Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry., Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed., Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalities were present in 9%. Perineal fistulas were seen most in boys (42%) and girls (29%). Rare forms of ARM were found in 4% of the male and in 14% of the female patients. Forty-five percent of the patients had additional urogenital abnormalities. However, 32% of the patients were never screened for bladder abnormalities. Eight percent were never screened for renal malformations. In the majority of patients (79%), a PSARP was performed for the definitive reconstruction., Conclusion: This collaborative effort provides a representative basis to estimate incidence of ARM types, to discuss differences and similarities in treatment, and health consequences throughout Europe., (© 2013.)

Objectives: To describe the MR imaging findings in adults presenting with anal incontinence following pull-through perineoplasty for anorectal atresia., Methods: 15 adults (12 male, 3 female; age 22-52 years) with anal incontinence following a prior perineal pull-through procedure as an infant for anorectal atresia were identified retrospectively. MR imaging was performed using either an endoanal coil or body coil. MR images were reviewed by three observers who noted whether pelvic floor and sphincter muscles were present and, if so, whether they were thinned or not. Data were tabulated and raw frequencies determined., Results: Images were unavailable for one patient, leaving 14 for analysis. Anal stenosis prevented endoanal coil placement in 5. The pull-through was anatomically correct in 12 (86 %) patients but was misdirected in 2. Thinned muscle was seen in 11 (79 %) patients. External sphincter thinning was commonest (present in 10 patients), with levator plate thinning least common (present in 4 patients). Only one patient had thinning of all muscle groups., Conclusion: MR imaging may be used to determine the extent and quality of residual pelvic floor and anal sphincter muscle in adults who have functional disability following pull-through perineoplasty for anorectal agenesis.

Background: Anorectal malformations (ARM) are usually diagnosed at birth, although, some patients have presented in the hospital beyond the newborn period without recognition of the anomaly. Late presentation in adulthood has also been reported. We report a case of adult ARM whose mother was instructed not to present in the hospital until she was old enough., Method: An adult female patient was evaluated and investigated preoperatively for high ARM with rectovestibular fistula. She had an initial colostomy which was followed by a primary posterior sagittal anorectoplasty (PSARP). Post-operatively, continent level was assessed using the Kelly continent score., Results: She had good post-operative recovery with an episode of faecal soilage. The Kelly continent score was 3 which later improved to 5., Conclusion: Although the sphincteric tone may be weak in the adult patient with ARM with reduced continent level at the initial stage, overall outcome of management of ARM with primary PSARP is good and comparable to outcome in children.

Pearls of meconium can be seen on the raphe of the scrotum and are considered as a sign of anorectal malformation (ARM). Scrotal pearls without ARM are rare in children and designated as median raphe cyst of the scrotum (MRC). A six-month-old boy with scrotal pearls without ARM is presented to discuss the clinical features and treatment modalities of MRC in infants.

MED12: is a member of the large Mediator complex, which has a critical and central role in RNA polymerase II transcription. As a multiprotien complex, Mediator regulates signals involved in cell growth, development, and differentiation, and it is involved in a protein network required for extraneuronal gene silencing and also functions as a direct suppressor of Gli3-dependent Sonic hedgehog signaling. This may explain its role in several different X-linked intellectual disability syndromes that share some overlapping clinical features. This review will compare and contrast four different clinical conditions that have been associated with different mutations in MED12, which is located at Xq13. To date, these conditions include Opitz-Kaveggia (FG) syndrome, Lujan syndrome, Ohdo syndrome (Maat-Kievit-Brunner type, or OSMKB), and one large family with profound X-linked intellectual disability due to a novel c.5898insC frameshift mutation that unlike the other three syndromes, resulted in affected female carriers and truncation of the MED12 protein. It is likely that more MED12 mutations will be detected in sporadic patients and X-linked families with intellectual disability and dysmorphic features as exome sequencing becomes more commonly utilized, and this overview of MED12-related disorders may help to correlate MED12 genotypes with clinical findings., (© 2013 Wiley Periodicals, Inc.)

Background: Anorectal malformations (ARMs) affect 1 in 4000-5000 births and are a big challenge in western countries. However, little is known about ARMs in Africa. The aim of this study is to evaluate the incidence, treatment and outcome of ARMs in Malawi., Materials and Methods: Over a 4-year period (2006-2009), data was extracted from patients up to and including the age of 5 years or less who underwent a colostomy, posterior sagittal anorectoplasty or colostomy closure., Results: Of the data that could be retrieved 46 patients met the criteria of congenital ARMs; 65.2% were female (N = 30) and 34.8% were male (N = 16). The median distance from patient to the hospital was 79 km and the median age at presentation was 24 days. In female patients: The most common ARM was the vestibular fistula (N = 21; 70%), a recto-vaginal fistula was found four times, a cloaca was found three times and a perineal fistula or no fistula were both found once each. The most common ARM among boys was the recto-urethral fistula (N = 10). Two boys had no fistula. A perineal fistula and a recto-vesical fistula were both found once each. Nearly, half of the patients (N = 22) had complications. Complications occurred less often in the group, which lived closest to the Surgical Unit (25%). Associated anomalies were found in one patient., Conclusion: This study shows a skewed distribution of age at presentation and type of ARM. The most likely explanations are (1) the distance to the hospital: Because none of the male patients presented after 4 weeks and many may have passed away before arriving at the tertiary care centre; (2) lack of knowledge among primary caregivers since very few patients with rectoperineal fistulas were seen. The rate of complications was high, probably also related to advance age at presentation. Therefore, Malawi needs more awareness for earlier detection and quicker intervention.

Laparoscopically assisted anorectal pull-through (LAARP), first described by Georgeson, is now considered to be the radical surgical treatment of choice for rectourethral fistula (RUF) in boys with high/intermediate-type imperforate anus. Accurate positioning of the pull-through canal, with pelvic floor muscles surrounding it symmetrically, is well recognized as the most important prognostic factor irrespective of the procedure performed. Surgical intervention should be LAARP with intraoperative measurement of the RUF, with follow-up focused on bowel habit. Complications such as diverticulum formation, have been reported with increasing frequency after LAARP and are most likely related to incomplete excision of the RUF, especially in bulbar cases. Thus, complete excision, while technically challenging, is crucial. Based on the results of a multicenter study comparing LAARP with other surgery, the most reliable investigation for detecting the presence of a diverticulum is MRI. At Juntendo University Hospital in Tokyo, Japan, blunt dissection with mosquito forceps to identify the potential pull-through canal, measuring the length of the RUF directly, and closer placement of trocars (in bulbar fistula cases) are homegrown refinements that we feel improve outcome and we present a review of our approach to the surgical management of ARM.

Purpose: In a patient with an anorectal malformation (ARM), the presence of a coloboma is commonly associated with other serious anomalies., Methods: Our database and the world literature were reviewed searching for associated defects in patients with ARM and coloboma., Results: Of 2,482 ARMs in our database, 11 had coloboma (0.4%): 2 were females. No specific associated type of ARM was identified. Six patients were developmentally delayed. Eight had a cardiac anomaly (3 had TAPVR, 2 VSD, 3 ASD), five required a cardiac operation. Five had a gastrointestinal anomaly (3 malrotation, 1 biliary and 1 duodenal atresia). Six had eye and seven had ear anomalies. Five had a genetic abnormality. In the literature, 71 patients with ARM and coloboma were found: 65 % were females. 24% died prematurely. 74% were developmentally delayed. 70% had a cardiac malformation (35% had TAPVR, 38% required an operation). 57% had gastrointestinal anomalies (31% malrotation, 31 % biliary atresia, 17% Hirschsprung disease). Eye and ear anomalies were present in 80 and 97% of patients, respectively. 81% had a genetic abnormality., Conclusions: An ocular inspection in patients born with ARM is crucial. The finding of a coloboma should increase awareness to evaluate for a developmental, cardiologic or gastrointestinal anomaly.