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Background Anorectal malformations (ARM) represent a wide spectrum of defects. Caudal and genitourinary malformations can associate with anorectal malformations. Genetic factors may play role in the development of anorectal malformations. Perineal masses like sacrococcygeal teratoma, rectal prolapse, or duplication cysts were reported before, but their association with perineal hamartoma and anal atresia is extremely rare. Case presentation Here, we report an 11-month-old female infant. She had 551 kb duplication at 7p12.3 with perineal hamartoma and anal atresia consisting a cystic lesion with a diameter of 4 mm at the filum terminale (L2 vertebra) on lumbar magnetic resonance imaging (MRI) in neonatal period. She presented with hypotonia. She had anorectal anomaly and external perineal mass bulging from left major labium extending across anal region with imperforate anus. There was 1 × 1 cm polyp-like protrusion on it. She was operated in neonatal period. Genetic laboratory investigations showed karyotype 46, XX. The microduplication of the chromosome 7p12.3 was detected by microarray analysis. There were not any significant homozygous or heterozygous variants determined by whole-exome sequencing. Conclusions To the best of our knowledge, this is the first report of a patient with a microduplication of the chromosome 7p12.3, and second case with perineal hamartoma and imperforate anus. Clinicians should pay attention to microdeletions and microduplications while giving genetic counseling to patients with urogenital and anorectal abnormalities.

Background Anorectal anomalies (ARA) are characterized by different clinical presentations in both sexes with consequently different management protocols. There exist several controversies and different strategies to manage ARA in the female. Purpose To present our experience in managing girls with ARA highlighting the rationale behind the chosen protocol. Patients and methods The study included 121 girls with ARA who underwent sagittal anorectoplasty during the period 2009 through 2019. Their age ranged from 3 to 57 months (median = 7 months). There were 68 cases with rectoperineal fistula, 51 with rectovestibular fistula, 1 case with rectovaginal fistula and another case without fistula. Preoperative colostomy was performed in only 5 cases (3 rectovestibular; 1 rectovaginal; 1 without fistula). The rest of cases underwent delayed primary sagittal anorectoplasty (beyond the neonatal period). Results Postoperative wound complications were detected in 14 cases (11.7%). In general, wound complications were more common among the rectoperineal group. Delayed healing problems in the form of mucosal prolapse/ectropion were detected in 10 cases. Thirty-four cases were available for delayed functional assessment. Voluntary bowel control was present in 91% of cases. Constipation was detected in 7 cases (20%) at follow up. Fecal soiling was present in 6 cases (17.6%); 3 of them were associated with constipation. Conclusion Delayed primary repair of rectoperineal and rectovestibular fistula is feasible with low complications. By adopting this protocol of management, we could achieve comparable results while avoiding unnecessary operations during the neonatal period. Level of Evidence This is a case series (Level IV Evidence).

Background Redo surgery for anorectal anomalies (ARA) may be considered a special category of reconstructive surgery with less predictable outcomes. In this report, we studied anatomical derangements in a group of boys following a previously complicated PSARP procedure, in addition to the effect of reoperation on rectifying this distorted anatomy. Results The study included 27 boys who were re-operated after a previous complicated PSARP. Included cases were divided into two groups: group A (14 cases) was referred before colostomy closure with an obviously complicated primary operation, and group B (13 cases) was referred with delayed complications after colostomy closure. Pelvic MRI examinations were performed before reoperation in 19 cases. In nine of these cases, a repeat MRI examination was performed at follow-up after reoperation to study the effect of redo surgery on rectifying the distorted anatomy. Abnormal wide anorectal angle and wide pelvic hiatus were common anatomical derangements after a previously complicated PSARP. An important goal of reoperation was reconstruction of the levator ani behind the anorectum trying to create a more acute anorectal angle and a narrower pelvic hiatus. The success of this corrective step was evaluated by MRI comparing pre- and postoperative measurements that showed a favourable decrease in the values of anorectal angle and hiatal/PC ratio. Improvement of faecal continence was documented after reoperation in 8 out of 10 cases in group B. Conclusion A wide pelvic hiatus was a frequently encountered postsurgical complication after failed PSARP that has most probably resulted from poor reconstruction of the pelvic floor at time of the primary repair. Re-approximation of the split halves of levator ani in the midline behind the anorectum at reoperation can help to correct the distorted internal anatomy and improve bowel control in these cases.

This study introduces a low-cost ostomy bag with sufficient softness for a newborn’s body to improve newborn medical care. Fused-deposition modeling was performed with a thermoplastic elastomer as ...

La obstrucción intestinal puede ocurrir a cualquier edad, desde recién nacidos hasta adultos. La etiología de la obstrucción varía mucho, dependiendo de la edad y antecedentes quirúrgicos del paciente. Causas congénitas comunes que incluyen atresia, estenosis, malrotación, enfermedad de Hirschsprung, ano imperforado y meconio las enfermedades del recién nacido, pero también pueden ser otras las causas de obstrucción, como la ingestión de varios cuerpos extraños, incluidos cacahuetes, fitobezoares, tricobezoares y pica en personas con discapacidad mental, falta de nutrientes en pacientes con déficit alimentario puede causar obstrucción intestinal parcial o completa en los niños, así como trastornos del crecimiento debido a desnutrición. Las ubicaciones comunes de obstrucción intestinal causada por cuerpos extraños incluyen la salida gástrica; como se evidencia en el síndrome de Rapunzel, y el íleon terminal. La ingestión de múltiples imanes conlleva su propio conjunto de riesgos de obstrucción intestinal, vólvulo y fístulas intestinales y, por lo general, requiere exploración quirúrgica.

Imperforate anus (IA) requires urgent treatment after birth, which is dependent on the type of IA, and is also frequently associated with other congenital abnormalities. Most patients with IA have an accompanying fistula, whose location is strongly associated with the type of IA. The fistula location can be a key factor in defining appropriate treatment, especially in neonates presenting with severe associated abnormalities. Herein, we report three cases of IA in which fistulas were detected and localized prenatally. Examination of the fetal pelvis through the sagittal or coronal view, using high-frequency transducers, revealed the location of the fistulas. In particular, the sagittal view obtained using the fetal infracoccygeal or perineal approach allowed us to determine the precise anatomy of the fistulas. Neonatal assessment confirmed the fistula locations. We recommend using the sagittal view obtained using the fetal infracoccygeal or perineal approach with high-frequency transducers to assess fistulas in fetuses with IA.

Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bífida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una polimalformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatología aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.

To investigate the prevalence of congenital scoliosis (CS) in infants based on chest–abdomen radiographs. A retrospective review was conducted on infants in the emergency department (ED) of a tertiary children's hospital between February 2008 and September 2019. Patients who had undergone chest–abdomen X-rays were included. All films from the enrolled patients were screened for CS. Their demographic characteristics, type, and location of the vertebral and rib anomalies, and concomitant defects of other systems were analyzed. In total, 50,426 infants were enrolled; 89 (1.8‰) were diagnosed with CS, including 56 males and 33 females. There was no gender difference in CS prevalence. The visiting age of the CS patients (70 ± 98days) was significantly younger than that of the non-CS group (P < 0.05), with CS patients mainly visiting for digestive (53.9%) and respiratory symptoms (41.6%). Sixty-eight (76.4%) CS patients had main thoracic (T6–T11) vertebral malformations. Rib anomalies were documented in 27 (30.3%) patients, of which 14 had complex rib anomalies. Forty (44.9%) patients had concomitant defects of other organs, of which eight patients had two systemic abnormalities mixed. The most common extraspinal defects were imperforate anus (21, 23.6%) and congenital cardiac defects (17, 19.1%). The prevalence of CS in infants based on chest–abdomen X-rays in the ED was 1.8‰. Both the vertebral and rib anomalies mainly affected the main thoracic region. The spine deformities in infants with concomitant defects of other organs could be identified earlier because of early-onset symptoms, which also bring out a selection bias in our analysis.

Gracilis muscle is type II muscle flap. Total 16 cases were operated on with Gracilis muscle or myocutaneous flap. Group A – loss of scrotal skin following Fournier’s gangrene. Group B - Traumatic avulsion of the scrotal skin, Group C – Anal incontinence following Surgical repair of imperforate anus. Group D – Carcinoma penis operated for total amputation of the penis. Amputation of the penis. All the patients from Group A did well except for necrosis at the margin of the flaps in two patients. In Group B patient did well without any complication in Group C Three out of five patients did well. Two patients were still incontinent. In Group D, the first patient had a good flap for seven days. Later there was discolouration and on a ninth day, there was complete discolouration of the skin pedicle. Debridement was done, the muscle underneath was viable. A split-thickness skin graft was applied. The graft takes up was good. Within 10 days the muscle contracted too much an extent that the size of the phallus became almost nil.

Double-lumen aortic arch is a rare congenital anomaly related to persistence of the fifth aortic arch. It may be found alone or in association with other anatomical changes of the heart. We report a case of double-lumen aortic arch associated with coarctation of the aorta and patent ductus arteriosus in a child with a congenital malformation known as the VACTERL association (vertebral defects, imperforate anus, cardiopathy, tracheoesophageal fistula, renal abnormalities and limb anomalies). Double-lumen Aortic Arch: Persistence of the [...]

Background/aims: Outcomes of anorectal malformations have greatly improved but many children still experience some form of urinary or fecal incontinence despite optimal management. The aim is to evaluate the functional outcome in infants with anorectal malformation for different surgical procedure including traditional and recent operations and outcome for different type of anorectal malformation. Subjects and Methods : An analytical study include 28 cases of anorectal malformation (16 males and 12 females ) operated by different technique in Erbil city during 2010 - 2016. Cases of cloaca and early deaths were excluded from the study. Results : In male Rectoperineal fistula (25% ) and in female Rectovestibular fistula (25% ) were the most common anomalies. the most common procedure were primary anorectoplasty for perineal fistula in both male and female infants in 10 cases ( 35.71% ) followed by transfistula anorectoplasty for rectovaginal fistula in 7 cases (25%) and PSARP for rectobladder neck and urethral fistula for male infants in 6 cases. The most common functional complication was constipation in 2 (7.15%) cases and only one case (3.57%) developed fecal incontinence . 89.29 percent of the patients had voluntary bowel movements and were totally continent. Conclusion : Despite significant developments in the understanding of the pathophysiology and surgical techniques, the results of surgery of ARM remain far from perfect. An optimal operation restores normal anatomy and preserves all potential sphincter structures. Functional complications, especially treatable ones, such as constipation, should be detected and treated early to achieve an optimal outcome.

Background Classifying anorectal anomalies (ARA) has always been a matter of debate among pediatric surgeons. A new classification does not necessarily imply discarding older ones. Several concepts have been introduced in the past and stood the test of time being still valid up till now In this report, we present our experience in managing a group of boys with ARA by PSARP. We have tried to enhance the current classification to include information about the level of the rectum in relation to sacrum, not just the location of the fistula. Results The study included 62 consecutive male patients with anorectal anomalies who underwent PSARP between 2009 and 2019. Included cases were either recto-bulbar fistula (21 cases), recto-prostatic fistula (30 cases), or imperforate anus without fistula (11 cases). Their age at operation ranged from 3 to 36 months (mean 7.8 months). Cases with recto-prostatic fistula were further subclassified according to the level of distal rectum into two subgroups: (type 1) those with the rectum ending opposite the level of S4/S5, and (type 2) those with the rectum ending at a higher level opposite S3. The PSARP procedure proved to be a successful surgical approach to reach, separate, and mobilize the rectum in all cases of recto-bulbar fistula, imperforate anus without fistula, and recto-prostatic fistula type (1). In cases of recto-prostatic fistula type (2), the perineal approach (PSARP) failed to reach and mobilize the rectum in two out of the eleven cases. Conclusion In management of anorectal anomalies, the sacrum can provide two important indicators: a prognostic value for continence, and anatomical landmark to stratify the level of distal rectum in the pelvis which is crucial for planning the best surgical approach.

Background Rectal prolapse after repair of an anorectal malformation (ARM) occurs at a frequency of 3.8% to 60.0%. Different techniques have been described for repair, with a recurrence rate of up to 33%. We aimed to describe a new technique for rectal prolapse and present its results. Methods A retrospective review of our database identified 14 patients with rectal prolapse after posterior sagittal anorectoplasty (PSARP) for an ARM. The study was performed from January 2014 until March 2020. All patients underwent transanal rectal mucosectomy and muscular plication (TRMMP). Results All but one patient had PSARP, and the remaining patient had laparoscopic-assisted PSARP. The mean age at repair was 4 years and 8 months (range, 1–12 years). One patient had three previous repair attempts, and another five had only one attempt. The mean follow-up was 2 years and 5 months (range, 3 months to 5 years and 7 months). None of the patients experienced prolapse recurrence or postoperative complications. Conclusion This preliminary report showed that TRMMP can be used for rectal prolapse, without the risk of recurrence or complications. Pediatric surgeons may consider this technique as another option for the treatment of rectal prolapse in patients with an ARM.

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstruc tive anorectal surgery is not necessary, immediate evaluation is important and urgent decom pressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultraso nography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. De spite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

Background: Atresia ani – the lack of an anal opening – is a rare condition in small animals. In some cases a connection forms between the blind end of the rectum and the skin (rectocutaneous fistula) that allows passage of feces. Only three cases have been found in the exotic mammal literature: two guinea pigs and one rabbit. Case presentation: A 6-month-old female guinea pig was presented for vocalization and difficulties during defecation that started 2 weeks before. During physical examination an imperforate anus and an abnormal opening located ventrally to it were detected. The guinea pig was able to pass very small feces through the abnormal opening with apparent discomfort. Once the stools were produced, the patient would go back to its normal behavior. A type 2 atresia ani combined with a rectocutaneous fistula was diagnosed. Surgical reconstruction of the anal canal preserving the fistula by means of using a pull-through technique to create a nonpainful, ectopic anus was performed. Conclusions and clinical relevance: Surgical treatment of rectocutaneous fistula was effective in the guinea pig of this case report. Future studies including a larger affected population and with long-term follow-up are needed.

Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.

Highlights • Cancer at the site of a colostomy is quite rare. • Management of the complex anatomic issues requires multi-disciplinary planning. • Colon cancer screening should be performed in patients with colostomies., Introduction This case report involves the presentation and management of a locally invasive adenocarcinoma at the site of a colostomy in a patient with multiple comorbidities and anatomic constraints. Presentation of case 63 year-old woman with a complicated medical and surgical history, including imperforate anus and permanent colostomy, who presented with a fungating mass at the site of her colostomy. Evaluation revealed a locally invasive adenocarcinoma requiring surgical management for symptom control and oncologic treatment. Discussion Due to the patient’s medical comorbidities, body habitus, prior surgery, prior radiation and locally invasive cancer, there were numerous physiologic and anatomic issues that required a multi-disciplinary approach. Specifically, consideration of the patient’s prior radiation to the left chest, history of cystectomy and ileal conduit, history of prior colon resection, as well as her short stature and severe kyphosis required input from urology, plastic surgery and colorectal surgery for operative planning. The patient's chronic renal insufficiency, recurrent urinary tract infections and history of thromboembolic disease further complicated her perioperative management. Oncologic resection with wide local excision at the skin and abdominal wall were performed with mass closure of the midline and peristomal abdominoplasty, using mesh underlay. The patient's postoperative course was complicated by gastric outlet obstruction and recurrent urosepsis. Conclusions Patients with chronic colostomies require colon cancer screening similar to their non-stoma peers, in accordance with national guidelines. Oncologic resection of cancers involving colostomies is feasible, but may require multi-disciplinary planning to manage complicated anatomic concerns.

Anorectal malformation or imperforate anus is a congenital anomaly of rectum and anus. Mullerian duct anomalies are abnormal development of uterus, cervix, and vagina. Imperforate anus with double uterus is extremely rare and cannot explain by normal embryologic development. Moreover, guideline in treatment is inconclusive. We report an extremely rare case of a young adult female who presented with recurrent pelvic inflammatory disease caused by rectovaginal fistula in congenital imperforate anus and didelphys uterus, and successfully neoanal reconstruction with gracilis muscle flap. Aims for treatment are closed rectovaginal fistula, and anal sphincter reconstruction. To our best knowledge, the imperforate anus with double uterus is extremely rare anomaly. Furthermore, successfully anal sphincter reconstruction with functional gracilis muscle in the imperforate anus with double uterus has never been reported in English literature.

PURPOSE OF REVIEW Congenital gastrointestinal anomalies are common findings with relatively established methods of treatment. However, the genetic cause of how these defects occur and how that may impact a child's lifelong care is less established. Genetic testing has improved significantly in recent years, yet reviews documenting prenatal genetic counseling and testing guidelines have not been comprehensively updated. RECENT FINDINGS Congenital anomalies of the foregut, such as tracheoesophageal fistula carry a high association with genetic disorders, both in isolation and syndromic forms. Duodenal atresia remains highly associated with Trisomy 21 but is not enriched in other genetic conditions. Disorders of the midgut, such as omphalocele often have a genetic cause and may require both cytogenetic and panel testing to obtain a diagnosis. The etiologic basis of hindgut malformations remain largely unknown, though imperforate anus as well as Hirschprung's disease have been associated with many micro deletion syndromes as well as in association with other birth defects as part of larger syndromes. SUMMARY Prenatal diagnostic genetic testing through amniocentesis or chorionic villus sampling can be offered to every patient who wants to learn genetic information about their fetus. Cytogenetic testing, such as microarray is a first tier test to assess cause for these conditions and can provide meaningful answers. When a gastrointestinal anomaly is identified in association with an additionally affected organ system next-generation sequencing and defect-specific genetic testing panels can be necessary to understand cause as well as prognosis to best prepare families for the medical management that lies ahead.

Background A colostomy is a surgical approach that creates an opening for the colon, or/and large intestine through the abdomen. Anorectal malformations are a group of abnormalities of the rectum and anus that are present at birth. Objective To analyze the common complications of colostomy in anorectal formations. Methods This was a retrospective study conducted on 50 temporary colostomies performed in children at the Surgical Department of the Abu Ghraib General Hospital in the period from January 2018 to January 2020. Information was collected regarding the patients' age, sex, body weight, associated anomalies, colostomy types and sites, and the indications and complications of colostomies. Results A total of 44 (88%) cases were reported in the children's 1st month of life. The ratio of male to female was 1:1. Pelvic colostomy was performed in 48 (96%) patients, as 40 (80%) children underwent a loop-type, and 8 (16%) patients underwent double-barrel colostomy. Transverse colostomy was performed on two patients. Prolapse occurred in 50% of the patients, and skin excoriations occurred in 22% .A total of 10% of the children developed sepsis. Bleeding was seen in 4% of the children after colostomy performance. Stenosis presented in 6% of the children, and this was corrected by repeated dilatation and re-fashioning. Obstruction of intestines was observed in one patient. The retraction developed in 6% of patients. Conclusions Imperforate anus was the most common indication for stoma formation in the pediatric age group. Loop colostomy was the most common type used, and it had the highest rate of complications. Prolapses and skin excoriation were the most common complications found.

Congenital chylous ascites (CCA) is a rare condition where there is an accumulation of chyle in the peritoneal cavity. Primary CCA due to dysplastic lymphatics is the most common cause in children. CCA discovered on ventriculopertoneal (VP) shunt insertion following previous myelomeningocele repair has only been described in a single paper before with the authors recommending a VP shunt safe to be sited in the presence of CCA. In this paper, we present a case of CCA in a term neonate with a myelomeningocele and an imperforate anus who underwent the siting of a VP shunt with no adverse effect. We provide an alternative hypothesise suggesting the link between raised intra-abdominal pressure caused by the imperforate anus as the aetiological factor in CCA.

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features are craniosynostosis-a condition of premature closure of skull's sutures-, midface hypoplasia-an incomplete development of the middle of the face-, and syndactyly-webbed fingers or toes-. The anorectal malformations (ARMs) associations with AS is rare, and the genetic link is highly complex. Only 12.7% of ARMs cases were associated with a syndrome that has a well-known impact on intellectual development, including AS. To our knowledge, this is the first reported case of AS with a high imperforate anus without fistula.

Congenital pouch colon is an uncommon anomaly worldwide and is usually associated with anorectal malformations. Imperforate anus with a large air fluid level on the abdominal x ray suggests the diagnosis. Most cases are diagnosed in neonates and an early management limit complications. Few studies have documented the histopathological features of congenital pouch colon. We present two cases with varied associated anomalies (Case 1 with rectovesical fistula, Case 2 with Mayer Rokitansky Kuster Hauser syndrome) and their histopathological features. Immunohistochemistry for calretinin showed paucity of ganglion cells and intrinsic fibers with occasional punctate positivity. The c-Kit immunostain documented fewer interstitial cells of Cajal. Cystitis glandularis with intestinal metaplasia (Case 1) and an additional muscle layer (Case 2) are described. These novel histopathological features characterize the entity further and may be related to genesis of the pouch and its clinical manifestations.

* Abbreviations: AFI: : amniotic fluid index BEEC: : bladder exstrophy epispadias complex CPAP: : continuous positive airway pressure HRQOL: : health-related quality of life MFCC: : maternal fetal care center MRI: : magnetic resonance imaging OEIS: : omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects OR: : operating room A 26-year-old gravida 1, para 0 pregnant woman was referred to the maternal fetal care center (MFCC) at 19 weeks’ gestation because of concern for bladder exstrophy. Fetal ultrasonography followed by fetal magnetic resonance imaging (MRI) performed at 18 4/7 weeks’ gestation (Fig 1) showed a large cyst of the inferior anterior abdominal wall, an absent bladder, bilateral clubfoot, suspicion for pelvic left kidney, a small right kidney, and a 2-vessel umbilical cord. This was a naturally conceived and uneventful pregnancy. Amniocentesis before referral showed a normal female karyotype, 46,XX, elevated α-fetoprotein, and normal acetylcholinesterase level. The microarray was normal. The maternal medical history was noncontributory. The family history was notable for a maternal grandmother with cleft palate. The patient was a nonsmoker without a history of past or current drug use, and her only medication was prenatal vitamins. Her prenatal laboratory findings were remarkable for group B Streptococcus positivity. Figure 1. Imported T2 magnetic resonance imaging performed at referring hospital of female fetus at 18 4/7 weeks’ gestation depicting early appearance of an anterior abdominal wall cyst that is simple and fluid-filled (green arrow). Also notable is oligohydramnios. The first MFCC visit was at 21 5/7 weeks’ gestation and included fetal echocardiography, fetal MRI, and fetal ultrasonography. Fetal echocardiography showed normal cardiac structure and function. The fetal MRI (Fig 2) was significant for oligohydramnios, an empty left renal fossa, a left-sided low pelvic kidney crossed fused to the right kidney without hydroureter or hydronephrosis, no identified urinary bladder, a 2-vessel cord with a large cyst emanating from the lower pelvis, bilateral clubfoot, low termination of the spinal cord, and differential signal intensity of the left lung suggesting possible nutmeg lung or lymphangiectasia. The fetal brain was normal. Fetal ultrasonography confirmed the aforementioned findings with the addition of a small intrapelvic fluid …

Infantile perianal pyramidal protrusion (IPPP) is an uncommon and underreported benign cutaneous lesion characterized by a protrusion from the anal orifice. It is also believed to be often mistaken for other conditions. The unawareness of this lesion may be responsible for underreporting and an excessive concern both in providers and in parents. Timely diagnosis and reassurance need to be emphasized in the provider community. We report an interesting case of IPPP on the first day of life, which was erroneously diagnosed as imperforate anus at her delivery.

Background: Rectovaginal fistula is a rare congenital disorder of dogs and cats that may occur with or without imperforate anus. The condition is characterized by a communication between the dorsal wall of the vagina and the ventral portion of the rectum, so that the vulva functions as a common opening for the urogenital and gastrointestinal tracts. Case presentation: A 3-year-old, 0.53 kg, surgically sterilized female ferret (Mustela putorius furo) was referred for passage of feces through the vulva, repeated vaginal discharge and vaginitis. Through physical examination, ultrasound, contrast radiographs, and CT scan exploration, the ferret was diagnosed with rectovaginal fistula which was surgically corrected. A vertical median perineal incision was made starting dorsally to the anal region and extended to surround the fistula. The rectum and vagina were closed separately. Conclusion and case relevance: Early postoperative complications included constipation, fecal incontinence, and perineal soiling in dogs and cats. No complications were observed with our ferret 7 and 15 days after the surgical correction. The purpose of this report is to describe a ferret with rectovaginal fistula as a sole anorectal abnormality that was treated by surgical correction for the first time.

Background: The initial management of a new born baby with anorectal malformation could be made only after an accurate determination of the level of the anomaly. Objective: To determine the accuracy of lateral invertogram in diagnosing and classifying anorectal anomalies. Methods: This was a retrospective study carried out between January 2003 and December 2013. The accuracy, sensitivity, and specificity of lateral invertogram in diagnosing and classifying anorectal malformations in the cases studied were determined. Results: A total of 62 children with anorectal malformations patients were seen during the study period. The age range was 4 hours to 6 years. A total of 50 (80.6%) had lateral invertogram while only 39 films of lateral invertogram were available for analysis. A total of 22 patients had high anomalies while 12 patients had low anomalies. The accuracy of lateral invertogram in identifying anorectal anomaly was 100% and its ability to differentiate between high and low anomalies was 76.5%. The Sensitivity in identifying high anomalies was 59% while the specificity was 31.8%. The sensitivity in identifying low lying lesions was 66.5% while the specificity was 50%. Conclusion: The accuracy, sensitivity, and specificity of lateral invertogramin diagnosing and classifying anorectal malformations were found to be satisfactory in the present study.

Aim: This study aimed to compare the surgical outcomes of patients with the intermediate-type imperforate anus who underwent laparoscopically assisted anorectoplasty (LAARP; L group) with those of ...

The introduction of posterior sagittal anorectoplasty (PSARP) by deVries and Peña in the early 80s has impacted to the treatment of patients with anorectal malformations (ARM). It gained great recognition worldwide in a very short time, and since then, surgeons dealing with the treatment of this complex malformation could achieve tremendous progress in contemporary management of this anomaly. Despite the growing experience and body of information globally, the treatment of ARMs continues to be a challenge to the pediatric surgeons due to the nature and the variability of the anomaly, and short- and long-term problems continue to exist even after nearly 40 years of the PSARP era. Today, knowing more about it, pediatric surgeons are committed to do more for their ARM patients to have them as physically and socially healthy individuals.

Highlights • CDS is a very rare congenital anomaly that includes duplication of distal body organs. • Our case has a complete double penis with two separate scrotums. • Colostomy with 4 stomas was done for duplicated colon., Introduction We present a newborn with double penis and double scrotum as a part of a caudal duplication syndrome (CDS) which is a condition includes duplication of the distal organs of the body. It is crucial to have knowledge about it to be able to be identified. Presentation A male newborn presented with double penis, double scrotum double urethra, double colon, and double imperforate anus. After work up a low descending colostomy was done (4 stomas of duplicated colon) and started feeding with normal passage from colostomy. Discussion The cause of CDS is unknown many theories have tried to explain that, but the most accepted theory is failure of monchorial twins to separate completely. CDS may be associated with other congenital anomalies as imperforate anus, renal anomalies, and omphalocele. Conclusion CDS is a very rare condition which needs multidisciplinary team to manage and needs staged repair. Most pediatricians and pediatric surgeons are unable to diagnose it, we add a case of CDS to the literature.

Highlights • Duplicated Appendix may be associated with imperforate anus. • Duplicated Appendix may be associated with Situs Inversus Totalis. • Complete duplication of an appendix on the normal site is possible. • Patients with congenital anomalies need thorough evaluation for other associated anomalies., Introduction Duplicated appendix is an uncommon entity, typically discovered as an incidental finding during surgery for appendicitis or other abdominal pathologies. It may be associated with other congenital malformations. We report a case of a male neonate incidentally discovered to have an unrecognized variant of duplicated appendix during a laparotomy plus diversion colostomy for imperforate anus at 4 days of age. Presentation of case A baby delivered at home from an unbooked pregnancy at term, was referred from a primary care clinic to a specialist referral hospital, with a fever and suspected neonatal sepsis on day 1 of life. The patient had not passed meconium and physical examination revealed an imperforate anus. After initiating treatment for sepsis, the patient underwent a laparotomy where a situs inversus totalis and complete appendiceal duplication was found, with both appendices on the normal site of a single caecum. The appendices were left in situ and a diversion colostomy was performed. The patient did well following surgery and was discharged on postoperative day 10 to await definitive surgery. Discussion Appendiceal malformations have been reported either in isolation or in association with other congenital anomalies. Duplicated appendix occurs rarely and the pathogenesis is not fully understood. This case adds more evidence that the classification of appendiceal abnormalities should continue evolving as newer types are described. Conclusion Surgeons operating on patients with congenital anomalies must exercise extreme vigilance to identify and document other rare pathologies that may later pose challenges thus avoid morbidity, mortality and potential medicolegal pitfalls.

In patients with anorectal malformations and a colostomy, the high-pressure distal colostogram is the technique of choice to determine the type of malformation and thus to plan the surgical repair. Perforations associated with high-pressure distal colostograms are very rare. The aim of our study was to identify pitfalls to prevent perforation secondary to high-pressure distal colostogram. The study included two male patients and was complicated with rectal perforations secondary to high-pressure distal colostogram. Both patients had an imperforate anus without a fistula. One patient had extraperitoneal rectal perforation with progressive contrast spillage into the peritoneum and demised. The other patient developed an extraperitoneal perforation and an associated necrotizing fasciitis of his perineum and scrotum, but he recovered well after debridement. Two further cases of rectal perforation have been described in the literature. Rectal perforation, although rare, is a described life-threatening complication secondary to high-pressure distal colostogram. The cause is excessive contrast pressure. Injection of contrast should be stopped once the distal end of the colon has a convex shape. Intraperitoneal perforation may cause hypovolemic/septic shock, and patients need to be appropriately resuscitated and should undergo laparotomy. Extraperitoneal perforation requires close monitoring for possible local complications, which may necessitate early debridement.

Background: Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in north Indian tertiary care centers. Objective: n this article, we deliberate on the possible causes associated with CPC bringing the manifestation of the disease. In addition, we throw insights on the effective role of this congenital anomaly in Colon and provide systems genomic evaluation by comparing our recent analysis to that of Colon and Ileum based on Next-Generation Sequencing (NGS) studies. Conclusions: In this commentary article, we argue that a host of epigenetic factors could be the reason why the disease is manifested in colon alone. We further hypothesize on the few unmet challenges linking epigenetics to understand the genetic variants.

Background Congenital anomalies have risen to become the fifth leading cause of under-five mortality globally. The majority of deaths and disability occur in low- and middle-income countries including Ghana. This 3-year retrospective review aimed to define, for the first time, the characteristics and outcomes of neonatal surgical conditions in northern Ghana. Methods A retrospective study was conducted to include all admissions to the Tamale Teaching Hospital (TTH) neonatal intensive care unit (NICU) with surgical conditions between January 2014 and January 2017. Data were collected on demographics, diagnosis and outcomes. Descriptive analysis was performed on all data, and logistic regression was used to predict determinants of neonatal mortality. p Results Three hundred and forty-seven neonates were included. Two hundred and sixty-one (75.2%) were aged 7 days or less at presentation, with males (n = 177, 52%) slightly higher than females (n = 165, 48%). The majority were delivered by spontaneous vaginal delivery (n = 247, 88%); 191 (58%) were born in hospital. Congenital anomalies accounted for 302 (87%) of the neonatal surgical cases and 45 (96%) deaths. The most common anomalies were omphalocele (n = 48, 13.8%), imperforate anus (n = 34, 9.8%), intestinal obstruction (n = 29, 8.4%), spina bifida (n = 26, 7.5%) and hydrocephalus (n = 19, 5.5%). The overall mortality rate was 13.5%. Two-thirds of the deaths (n = 30) from congenital anomalies were conditions involving the digestive system with gastroschisis having the highest mortality of 88%. Omphalocele (n = 11, 23.4%), gastroschisis (n = 7, 14.9%) and imperforate anus (n = 6, 12.8%) contributed to the most deaths. On multivariate analysis, low birthweight was significantly associated with mortality (OR 3.59, CI 1.4–9.5, p = 0.009). Conclusion Congenital anomalies are a major global health problem associated with high neonatal mortality in Ghana. The highest burden in terms of both caseload and mortality is attributed to congenital anomalies involving the digestive system, which should be targeted to improve outcomes.

BACKGROUND: Congenital portosystemic shunt (CPSS) is a rare malformation in which splanchnic venous flow bypasses the liver. CPSS is associated with other congenital anomalies and syndromes and can be associated with life-threatening complications. CPSS and their management remain underreported in the literature. Here, we review the clinical characteristics, management, and outcomes of a cohort of children and young adults with CPSS from two pediatric centers. METHODS: Cases of CPSS from Cincinnati Children’s Hospital Medical Center and C.S. Mott Children’s Hospital were reviewed to define CPSS anatomy, associated anomalies, complications, interventions, and outcomes. The imaging features and histopathology of liver lesions were characterized in detail. RESULTS: A total of 11 cases were identified. Median age was 10 years (range 0–26); 8 (73%) cases were female. Associated anomalies included six patients with heterotaxy (55%), five patients with congenital heart disease (45%), three patients with Turner syndrome (27%), and two patients with omphalocele, exstrophy, imperforate anus, spinal defects (OEIS) complex (18%). Eight (73%) cases had hyperammonemia ± encephalopathy. A 4-month-old presented with hepatopulmonary syndrome, and 12-year-old presented with pulmonary hypertension. Eight patients (73%) had liver lesions including five with premalignant adenomas and three with well-differentiated hepatocellular carcinoma (HCC). Four children underwent successful CPSS occlusion/ligation. Three children underwent liver transplant (2) or resection (1) for HCC without recurrence at extended follow-up. CONCLUSIONS: CPSS is associated with multiple anomalies (heterotaxy, congenital heart disease) and syndromes (Turner syndrome). CPSS liver lesions should be very carefully evaluated due to risk of premalignant adenomas and HCC. Serious complications of CPSS can occur at a young age but can be managed endovascularly or with open surgery.

OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific associated risk factors uncertain. Objectives This study aimed to determine the prevalence, clinical spectrum, possible early pregnancy exposures, and demographic characteristics as potentially associated risk factors in a sample of Mexican cases. Methods We conducted a multihospital based case-control study on 12 cases with the OEIS complex identified in 1,195,020 LB born from January 1978 to December 2015. All comparisons performed were matching 1:3 the relation of cases and controls, respectively, considering the p-value of ≤.05 as statistically significant. Results The prevalence of OEIS was 1.004/100,000 (1/99,585) LB. The frequency of bladder/cloacal exstrophy was 75 and 25%, respectively, omphalocele was 83.3%, and imperforate anus and spinal defects, 75.0% each. Two pairs of twins discordant for the defect exhibited the severest OEIS phenotype. Except for the higher frequency of maternal first pregnancy trimester influenza infection, early perinatal mortality and a twining trend association, none other variable differed significantly. Discussion The prevalence of OEIS in our sample is within the highest reported worldwide. First-trimester pregnancy maternal influenza infection and twining emerge as associated risk factors for OEIS. Although twin zygosity was not defined, the observed severest phenotypes in twins endorse the hypothesis that OEIS and monozygotic twinning are features of disturbances on early blastogenesis.

Background The unicornuate uterus is caused by abnormal or failed development of one Müllerian duct. Unicornuate uteri with functioning non-communicating rudimentary horns are susceptible to many gynaecologic and obstetric complications such as hematometra, endometriosis and ectopic pregnancy and thus surgical resection is usually recommended.. Case presentation We report a rare case of a unicornuate right uterus with rudimentary non-communicating (functional) cavitary left horn (class U4a) in a 17-year-old girl who was diagnosed with VACTERL association. She was presented to our centre with 3 years history of secondary sever dysmenorrhea. Pelvic magnetic resonance imaging revealed a normal uterus on the right side, a 7 × 8 cm left endometrioma, a tortuous dilated fluid-filled structure in the left hemipelvis, mostly represented left-sided hematosalpinx, and a well-defined lesion with thick enhancing wall in the left hemipelvis measuring 6.7 × 5.7 × 5.6 cm with a similar enhancement to the uterus in the right. She underwent laparotomy that showed a right unicornuate uterus with a normal cervix and a rudimentary non-communicating distended left horn. In addition, there was a left endometrioma and left hematosalpinx. Resection of the left communicating horn, left salpingectomy and left ovarian cystectomy were performed. The right tube and both ovaries were preserved. At 9-months follow up, the patient had a regular period and the pain subsided completely. Conclusion We report yet the second case of VACTERL association and unicornuate uterus with non-communicating functional rudimentary horn, in hope of expanding the knowledge of a rare occurrence. This case also highlights the importance of considering the diagnosis of Müllerian duct anomalies in patients with a history of other anomalies, and/or history of early-age secondary dysmenorrhea.

In November 2015, an 83-d-old juvenile male common marmoset (Callithrix jacchus) in good body condition was found dead in his family cage with no previous premonitory signs. Necropsy revealed a gas-distended abdomen, feces-distended large bowel, and a full-thickness distal colonic perforation resulting in fecal peritonitis. The distal colon ended in a blind pouch at 7 mm prior to the expected anal opening, consistent with atresia ani. Here we present this case, briefly discuss the human and veterinary literature regarding correction of anorectal malformations, and highlight the importance of identifying such devastating congenital defects in breeding colonies while limiting the disruption and handling of seemingly healthy, young NHP raised in a complex social setting.

El complejo onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS) es una combinación de malformaciones congénitas severas y extremadamente raras. Su incidencia estimada de 1 por cada 200.000 – 400.000 nacidos vivos. La aparición de los casos es esporádica y no tienen una etiología conocida. Algunos casos han sido asociados a exposiciones ambientales, causas genéticas y procedimientos de fertilización in vitro. El mecanismo de desarrollo parece asociado a alteraciones de la blastogénesis temprana o defecto de la migración mesodérmica durante el período embrionario. El diagnóstico prenatal puede realizarse a las 16 semanas de gestación, aunque en ocasiones es posible un diagnóstico más temprano. Su diagnóstico definitivo se realiza con los hallazgos de la necropsia. La mayoría de los recién nacidos supervivientes necesitan múltiples cirugías con complicaciones potenciales y no siempre alcanzan los resultados deseados. Se presenta un caso de diagnóstico prenatal de onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS).

Background: The present study of twins was done among the patients admitted in the department of Obstetrics and Gynecology at Sri Aurobindo Medical College and Post Graduate Institute, Indore. Method: Blood sample from the mother was collected for estimation of hemoglobin percentage to diagnose anemia, ABO & Rh typing for blood transfusion if necessary. Urine examination for albumin, sugar & acetone. Special investigations like USG done whenever possible. In maximum cases ultrasonography was done to detect or confirm presence of twins, their lie, maturity, gestational age, rule out congenital anomaly & to note any IUGR, Discordant growth. Amount of liquor also noted. Result: 143 (85.10%) babies were LBW. The main factors responsible for LBW were IUGR and prematurity. Intrauterine growth retardation affected 42 cases (24.41%) while prematurity affected 42 cases (24.41%) and 8 (9.3%) cases aborted. Intrauterine death was more common in first baby, because of malpresentations. Asphyxia was found to be slightly more in second baby in our study. Congenital anomalies were found in total 3 cases (1.78%). In one case, baby-2 was Anencephalic and in the other case baby-2 had fetal ascites. In one case baby-1 had multiple congenital anomalies with imperforate anus. Cord prolapse was present in one case. In one case (Case No. 17) first baby was presented by footling with cord prolapse LSCS was done, baby had SBA and died 1 day after birth. There were 8 abortions. All were second trimester abortions (12 weeks and 22 weeks). Conclusion: In the present study, incidence of various antepartum and intrapartum complications were less in booked cases, which shows that availability of antenatal care to more patients will further reduce their incidence and thus will decrease maternal morbidity. Keywords: Complications, Antepartum, Intrapartum & Postpartum.

Anorectal malformations (ARMs) can occur in isolation or in association with other anomalies, most commonly those of the genitourinary systems. Morbidity and mortality are highest among patients who develop end-stage renal disease (ESRD) either from severe congenital anomalies (dysplastic kidneys) or from repeated infections in those who have vesicoureteral reflux or persistent recto-urinary fistulas. We describe our management strategy for a patient born with an ARM and bilateral dysplastic kidneys to highlight the nuances and complex decision-making considerations required in taking care of this complex patient population. Our patient is a male twin born at 32 weeks’ gestational age who was found to have bilateral dysplastic kidneys on prenatal ultrasound. On initial examination, an imperforate anus was identified along with a severe urethral stricture. Full workup also revealed sacral dysgenesis and confirmation of the dysplastic kidneys. On day of life 3, a laparoscopic diverting sigmoid colostomy was performed; urologic evaluation confirmed the severe urethral stricture, which required dilation to place an 8F council tip catheter. Due to his small size, peritoneal dialysis could not be initiated until five weeks of age. As full volumes could not be reached with peritoneal dialysis, he was soon transitioned to continuous renal replacement therapy. At five months of age, a laparoscopic-assisted posterior sagittal anorectoplasty (PSARP) was performed. As his urethral stricture had worsened, a suprapubic catheter had been placed for bladder decompression. Reversal of his colostomy was performed 15 days after PSARP. Unfortunately, the patient required three further surgical interventions due to abdominal wall and inguinal hernias contributing to filling and emptying dysfunction when utilizing peritoneal dialysis. He is currently 16 months of age and remains inpatient due to intermittent hemodialysis requirements along with autocycling of his peritoneal dialysis. He is working on developmental milestones, can pull to a stand, and is currently being evaluated for kidney transplantation. The development of ESRD in a neonate or infant with an ARM is rare and can be due to congenital dysplasia or agenesis of bilateral kidneys. While peritoneal dialysis is the preferred approach, catheter dysfunction can result from intra-abdominal adhesions or inadequate fluid removal from inguinal or abdominal wall hernias that form in the setting of increased intra-abdominal pressure required for peritoneal dialysis. Close collaboration is required between pediatric surgeons, nephrologists, and urologists to facilitate colonic and urologic reconstruction and manage catheter-related complications.

Background This report describes a rare surgical case of an intraabdominal mass in a middle-aged patient 40 years after imperforate anus repair. Case presentation A 44-year-old Latino male with history of repaired anorectal malformation presented with recurrent urinary tract infections and rectal prolapse with bothersome bleeding and fecal incontinence. During his preoperative evaluation, he was initially diagnosed with a prostatic utricle cyst on the basis of magnetic resonance imaging findings, which demonstrated a cystic, thick-walled mass with low signal contents that extended inferiorly to insert into the distal prostatic urethra. However, at the time of surgical resection, the thick-walled structure contained an old, firm fecaloma. The final pathology report described findings consistent with colonic tissue, suggesting a retained remnant of the original fistula and diverticulum. Conclusions Although rare, persistent rectourethral fistula tracts and rectal diverticula after imperforate anus repair can cause symptoms decades later, requiring surgical intervention. This is an important diagnostic consideration for any adult patient with history of imperforate anus.

Background: The survival and outcome of neonates with anorectal malformations (ARM) have much improved in the developed countries due to optimal perioperative and postoperative care but in developing countries, sepsis, low birth weight, delayed presentation, and lack of intensive care for neonates are still important in affecting the outcome. This study was carried out to evaluate factors of poor outcome (mortality) in neonates with ARM. Method: This is a prospective analytical study. A total of 44 consecutive neonates with Anorectal malformations (ARM) presenting to the Department of Pediatric Surgery, The Children’s Hospital, Pakistan Institute of Medical Sciences, Islamabad, were included. Variables studied included age at presentation, gender, birth weight, type of malformation, sepsis at presentation, type of surgery performed, postoperative complications, and their relationship to the outcome. The statistical analysis was performed using SPSS version 21. Results: A total of 44 neonates with ARM were included in the study. In the study population, 56.8 % (25) were males and 43.2% (19) were females. The mean age at presentation was 2.1 ± 0.5 days. The mean birth weight was 2.5 ± 0.6 kg. Overall mortality was 29.5% (13) with 13.63% (6) patients died pre-operatively. The most common cause of death in postoperative patients was sepsis (40%). There was a statistically significant relationship between low birth weight (P=

Purpose To report the sequelae of and preventive strategies for selected lower urinary tract (LUT) complications, i.e., posterior urethral diverticulum (PUD), intraoperative LUT injuries, postoperative dysuria, and fistula recurrence in male imperforate anus (IA) with rectourethral/rectovesical (RU/RV) fistula after laparoscopy-assisted anorectoplasty (LAARP) or posterior sagittal anorectoplasty (PSARP). Methods 153 boys with IA and RU/RV fistula treated 1986–2019 by LAARP (n = 56) or PSARP (n = 97) at two unrelated institutes were studied retrospectively. Results After mean follow-up of 17.0 years (range: 36.5 days-32.0 years), the overall incidences of LUT complications were: LAARP (6/56; 10.7%); PSARP (7/97; 7.2%); p = 0.55, comprising PUD: LAARP (n = 5), PSARP (n = 0); p = 0.006; injuries: LAARP (n = 0), PSARP (n = 5); p = 0.16; dysuria: LAARP (n = 1), PSARP (n = 1); p>0.999; and recurrence: LAARP (n = 0), PSARP (n = 1); p>0.999. Mean onset of PUD was 5.1 years (range: 1.0–15.1 years). Treatment: PUD: surgery (n = 2/5), conservative (n = 3/5); injuries: intraoperative repair (n = 5/5); dysuria: conservative (n = 2/2), and recurrence: redo PSARP (n = 1/1). Conclusions Strategies devised to improve dissection accuracy resolved the specific technical issues causing LUT complications (remnant RU fistula dissection in LAARP and blind posterior access in PSARP). Currently, the incidence of new cases of PUD and LUT injuries is zero. Level of Evidence: Level III

Background Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. In addition, the protein tyrosine phosphatase receptor type Q (PTPRQ) gene has been identified in nonsyndromic hearing loss patients with autosomal recessive or autosomal dominant inherited patterns. Methods A Chinese family with TBS and hearing loss was enrolled in this study. The proband was a two-month-old girl who suffered from congenital anal atresia with rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension (PH), and finger deformities. The proband’s father also had external ear deformity with deafness, toe deformities and PH, although his anus was normal. Further investigation found that the proband’s mother presented nonsyndromic hearing loss, and the proband’s mother’s parents were consanguine married. Whole-exome sequencing and Sanger sequencing were applied to detect the genetic lesions of TBS and nonsyndromic hearing loss. Results Via whole-exome sequencing and Sanger sequencing of the proband and her mother, we identified a novel heterozygous mutation (ENST00000251020: c.1428_1429insT, p. K478QfsX38) of SALL1 in the proband and her father who presented TBS phenotypes, and we also detected a new homozygous mutation [ENST00000266688: c.1057_1057delC, p. L353SfsX8)] of PTPRQ in the proband’s mother and uncle, who suffered from nonsyndromic hearing loss. Both mutations were located in the conserved sites of the respective protein and were predicted to be deleterious by informatics analysis. Conclusions This study confirmed the diagnosis of TBS at the molecular level and expanded the spectrum of SALL1 mutations and PTPRQ mutations. Our study may contribute to the clinical management and genetic counselling of TBS and hearing loss.