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Background: Townes-Brocks Syndrome (TBS), an autosomal dominant disorder, is known to cause hearing loss amongst other expressions including anomalies that affect the external ear, hands, feet, anus, and kidneys. Case presentation: This report describes a case of a four-year-old male of Iranian origin with TBS diagnosed with bilateral profound sensorineural hearing loss who underwent unilateral cochlear implantation in Tanzania. Along with sensorineural hearing loss, the child has dysplastic external ears, ulnar deviation of the thumbs, and overlapping toes. Radiological evaluation revealed cochlear hypoplasia with an enlarged vestibular aqueduct. This is the first known published case of TBS with a cochlear implant in East Africa and details the child's history, audiological findings, surgical procedure, and post-surgical outcomes. The patient has shown a remarkable increase in Infant–Toddler Meaningful Auditory Integration Scale (IT-MAIS) scores and aided sound-field thresholds at 3 months and 6 months post-switch on. Conclusion: This case advocates for encouraging intervention via cochlear implantation and increased awareness of such syndromes. It also adds to the literature on TBS, and its relation to sensorineural hearing loss and inner ear malformations. [ABSTRACT FROM AUTHOR]

Objectives: To introduce a two‐dimensional sonographic method to assess the fetal anus, and to evaluate the feasibility of this method to diagnose anal atresia prenatally and identify the presence or absence of anoperineal fistula (in males) and anovestibular fistula (in females). Methods: This was an observational study of suspected cases of anal atresia referred to a single center in Israel between August 2018 and October 2023. In addition to conventional evaluation of the perineum in the axial plane, fetuses referred to our center for suspected malformation were scanned with a new method termed the 'infracoccygeal/transperineal window'. This window consisted of a midsagittal view of the fetal pelvis, including the distal rectum and the anal canal. Normal anatomy was confirmed when the anal canal was continuous with the rectum and terminated at the expected location on the perineum. In female fetuses, the normal anal canal runs parallel to the vaginal canal and diverges posteriorly, terminating at the perineal skin, distant from the vestibule. In male fetuses, the normal anal canal diverges posteriorly in relation to the corpora cavernosa, terminating at the perineal skin, distant from the scrotum. High anal atresia was identified when a blind‐ending rectal pouch was demonstrated in the pelvis without a fistula to the perineum or vestibule. Low anal atresia was determined when a rectal pouch was continuous with an anteriorly deflected fistula. In females, the fistula converges with the vaginal canal, terminating at the vestibule; in males, the fistula deflects anteriorly, terminating at the base of the scrotum. Postnatally, the diagnosis and type of anal atresia were confirmed through physical examination with direct visualization of the fistula, radiographic studies, surgical examination and/or postmortem autopsy. Results: Of the 16 fetuses diagnosed prenatally with anal atresia, eight were suspected to have low anal atresia and eight were suspected to have high anal atresia. The median gestational age at diagnosis was 23 (range, 14–37) weeks. All cases showed additional structural malformation. Eleven patients opted for termination of pregnancy, of which four had low anal atresia and seven had high anal atresia. Postnatal confirmation was not available in four cases due to curettage‐induced mutilation or in‐utero degradation following selective termination of the affected twin, leaving 12 cases for analysis, of which seven were diagnosed with low anal atresia and five with high anal atresia. In these 12 cases, all prenatal diagnoses were confirmed as correct, rendering 100% sensitivity and 100% specificity in this high‐risk fetal population. Conclusions: The infracoccygeal/transperineal window is an effective method to detect and classify the level of anal atresia prenatally. This may improve prediction of postnatal fetal continence and optimize prenatal counseling. © 2024 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

OEIS complex is a rare congenital malformation characterized by the presence of omphalocele, bladder exstrophy, anal imperforation, and spina bifida, with an unclear etiology thought to be multifactorial and heterogeneous. We report a case of OEIS complex in a spontaneous dizygotic twin pregnancy involving a 29-year-old gravida 2, para 1 woman. The condition was first suspected at 22 weeks of gestation during a detailed ultrasound, which revealed characteristic abnormalities, and was later confirmed by magnetic resonance imaging (MRI) showing omphalocele, bladder exstrophy, and spinal malformations. This case emphasizes the importance of prenatal imaging, particularly ultrasound and MRI, in the early detection of OEIS complex, as accurate prenatal diagnosis is crucial for effective counseling, optimizing perinatal management, and planning for postnatal reconstructive surgery.

Background: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the "hotspot region", which is particularly susceptible to mutation. Methods: In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations. Results: We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein. Conclusions: Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010–2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward. [ABSTRACT FROM AUTHOR]

Objectives: The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic. Materials and methods: We retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher's exact test was conducted to investigate potential risk factors. Results: There were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases). Conclusion: Anal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.

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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.

Cloacal exstrophy (CE) is a group of congenital anomalies most commonly affecting the genitourinary, gastrointestinal and skeletal systems. Management of these anomalies requires multidisciplinary care and involves staged surgical reconstruction. We present the case of a newborn male referred due to a midline abdominal mass and imperforate anus noted upon delivery. Physical exam revealed an omphalocele, bladder exstrophy, bifid penis, and imperforate anus. Imaging revealed right renal agenesis and pubic diastasis. The patient underwent repair of cloacal exstrophy, bilateral ureteral stent, bilateral anterior osteotomy, primary repair of bladder with bowel augmentation to increase capacity, perineal urethrostomy, genital reconstruction and end colostomy. He was maintained in a pelvic wrap for the osteotomy to heal. He was discharged well. The surgical management of exstrophy is varied involving multiple approaches. While most authors would do a staged repair of the exstrophy leaving the bladder augmentation later because of high failure rates. Our approach to primarily address a relatively small bladder with a patch during closure in selected patients is feasible. Although long term follow-up is needed to achieve good quality of fecal and urinary incontinence, early surgical bladder correction may suggest earlier achievement of continence among patients. Patient is doing well after three years of this procedure with minimal soiling per urethrostomy. Our future plans include repair of the imperforate anus and urodynamic studies to monitor bladder function. [ABSTRACT FROM AUTHOR]

This discussion reviews gastroenterological problems that are most likely to be seen in a normal newborn nursery under the care of a general pediatrician. Conditions are divided into congenital and acquired. Congenital conditions that are considered are tracheoesophageal fistula, intestinal atresia, intestinal malrotation and imperforate anus. Acquired conditions are gastroesophageal reflux, constipation, food allergy and failure to thrive. [ABSTRACT FROM AUTHOR]

Neonates with a new diagnosis of anorectal malformation (ARM) present a unique challenge to the clinical team. ARM is strongly associated with additional midline malformations, such as those observed in the VACTERL sequence, including vertebral, cardiac, and renal malformations. Timely assessment is necessary to identify anomalies requiring intervention and to prevent undue stress and delayed treatment. We utilized a multidisciplinary team to develop an algorithm guiding the midline workup of patients newly diagnosed with ARM. Patients were included if born in or transferred to our neonatal intensive care unit (NICU), or if seen in clinic within one month of life. Complete imaging was defined as an echocardiogram, renal ultrasound, and spinal magnetic resonance imaging or ultrasound within the first month of life. We compared three periods: prior to implementation (2010–2014), adoption period (2015), and delayed implementation (2022); p ≤ 0.05 was considered significant. Rates of complete imaging significantly improved from pre-implementation to delayed implementation (65.2% vs. 50.0% vs. 97.0%, p = 0.0003); the most growth was observed in spinal imaging (71.0% vs. 90.0% vs. 100.0%, p = 0.001). While there were no differences in the rates of identified anomalies, there were fewer missed diagnoses with the algorithm (10.0% vs. 47.6%, p = 0.05). We demonstrate that the implementation of a standardized algorithm can significantly increase appropriate screening for anomalies associated with a new diagnosis of ARM and can decrease delayed diagnosis. Further qualitative studies will help to refine and optimize the algorithm moving forward.

Objective: We present prenatal ultrasound images of two high anal atresia cases. The main screening tool used in our clinic is the “target sign” in the tangential view of the fetal perineum. In the current report, we discuss some challenges in the existing screening practices. Case report: Case 1: A 28-year-old woman (gravida 1, para 0) with a twin pregnancy underwent ultrasound screening at 21 weeks of gestation when an absent “target sign” in twin A was discovered. At the same time, we were able to present evidence that if the wrong plane was visualized, other structures could be mistaken as the “target sign”. Eventually, high-type anal atresia was confirmed postnatally in Twin A. Case 2: A 29-year-old woman (gravida 1, para 0) came to our clinic for routine screening at 23 weeks of gestation. In the standard tangential view at the level of the perineum, a low-high concentric circle structure resembling a “target sign” was visualized during a prenatal scan. However, anal atresia was discovered postnatally. A retrospective review of prenatal images revealed discrepancies from the typical “target sign”. Conclusion: High-type anal atresia may present as a pseudo “target sign” on prenatal ultrasound. Visualization of a “target sign” on fetal ultrasound does not always exclude the diagnosis of anal atresia. It is crucial to evaluate the size, shape, level, and position of the “target sign”. The appearance of the bilateral hyperechoic perianal tissue is a hint for the screening of anal atresia.

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare birth disorder involving a combination of gastrointestinal, musculoskeletal, renal, neural, and genitourinary system defects. We present a case report of a neonate with OEIS born by vertex spontaneous delivery to non-consanguineous parents. The major presenting defect was exstrophy of the cecum lying between two exstrophied halves of the bladder, an imperforate anus and spina bifida myelomeningocele. Explorative laparotomy revealed a duplex kidney system, attachment of the terminal ileum and cecum to the exstrophy, and a sausage-like atretic large bowel. Malrotation was also noted. Ladd's bands were released followed by ileostomy and ureterostomy. Patient was stable post-operatively and in the incubator on room air. OEIS remains a challenging anomaly that requires optimal treatment to facilitate the quality of life. With appropriate surgical intervention, the functional and social treatment goals for this unusual congenital defect can be met. [ABSTRACT FROM AUTHOR]

Anorectal malformation with a rectal-urethral-scrotal fistula is rare. There is only one other case series that describe diagnosis and management of this disease. Cases: This case series details presentation, diagnosis and management of two cases of this anomaly. After diversion, fluoroscopic studies were required to accurately assess the fistulous tract from the scrotum to the urethra and the rectum. Once the diagnosis was made, formal PSARP was performed and the colostomy was reversed thereafter. Aside from constipation, both patients have done well. Conclusion: These cases highlight the importance of high suspicion for this type of unusual anorectal malformation when male patients present with scrotal fistula.

Introduction: Rectal duplication is a rare condition with less than 100 cases documented in the literature. There are eleven reported cases of rectal duplication and anorectal malformation occurring concurrently. We present one such case with intraoperative discovery of the duplication and discuss intraoperative techniques and postoperative management. Case Presentation: A term male was transferred to our institution with an anorectal malformation noted on exam. Routine prenatal imaging had revealed an absent right kidney without any other anatomic abnormalities noted. Physical exam revealed a perineal fistula anterior to the sphincter complex. The patient was initially managed with twice daily dilations of the fistula until 2 months of life. He was then taken to the operating room for planned posterior sagittal anorectoplasty (PSARP). Intraoperatively, a blind ending tubular duplication was discovered anterior to the true rectum. This was managed with creation of a common channel and tapering rectoplasty followed by completion of the anoplasty. A diverting loop ileostomy was performed. Prior to ileostomy closure at 6 months of life, a contrast enema was performed and demonstrated that the duplication extended to the level of the splenic flexure. A Tc99 scan was obtained to rule out ectopic gastric mucosa. Conclusion: This case illustrates a rare presentation and operative management of a colon and rectal duplication associated with an anorectal malformation and emphasizes the importance of adequate mobilization of the rectal fistula when performing a PSARP. Level Of Evidence: Level V

Anorectal malformations (ARMs) are managed classically in three stages -- colostomy at birth, anorectal pull-through after 2-3 months, and stoma closure. Single-stage pull-through has been contemplated in neonatal age aimed to reduce the number of procedures, better long-term continence, the better psycho-social status of the child, and reduced cost of treatment, especially in resource-strained countries. We conducted a systematic review comparing neonatal single-stage pull-through with stage pull-through and did a meta-analysis for the outcome and complications. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PubMed and Scopus databases were searched and RevMan 5.4.1 was used for the meta-analysis. Fourteen comparative studies including one randomized controlled trial were included in the systematic review for meta-analysis. The meta-analysis included 1845 patients including 866 neonates undergoing single-stage pull-through. There was no statistically significant difference for the occurrence of surgical site infection (odds ratio [OR] 0.82, 95% confidence interval [CI]: 0.24-2.83), urinary tract injury (OR 1.82, 95% CI: 0.85-3.89), rectal prolapse (OR 0.98, 95% CI: 0.21-5.04), anal stenosis/stricture, voluntary bowel movements (OR 0.97, 95% CI: 0.25-3.73), constipation (OR 1.01, 95% CI: 0.61-1.67), soiling (OR 0.89, 95% CI: 0.52-1.51), mortality (OR 1.19, 95% CI: 0.04-39.74), or other complications. However, continence was seen to be better among patients undergoing neonatal pull-through (OR 1.63, 95% CI: 1.12-2.38). Thus, we can recommend single-stage pull-through for managing patients with ARMs in the neonatal age. [ABSTRACT FROM AUTHOR]

Megalourethra is a rare clinical entity of absence or hypoplasia of corpus spongiosum and/or corpora carvenosa or anterior urethral valve along the pendulous urethra causing enlarged penis as a result of cystic dilatation of this part mostly during passage of urine. It may be associated with other congenital anomalies such prune belly syndrome and imperforated anus among others. We present a 10-day old neonate with scaphoid megalourethra associated with imperforated anus and pyloric stenosis. To the best of our knowledge, wehave limitedinformation on megalourethra in most parts of Africa but also, we were unable to find out any published report in East Africa regarding this rare condition especially in association with pyloric stenosis and imperforated anus. [ABSTRACT FROM AUTHOR]

Purpose: To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference scores. Methods: Patients with the diagnosis of ARM or HD from the Adult Colorectal Research Registry completed the Short Form 36 Health Survey (SF-36), the Gastrointestinal Quality of Life Index (GIQoLI), and the Bowel Function Score (BFS) between October 2019 and August 2022. One-sample Wilcoxon test compared the results to reported healthy references with a significance level of < 0.05. Results: The response rate was 67%. All three surveys were completed by 133 adults with a slight preponderance of males (51%). Median age was 31 years, 117 were born with ARM and 16 with HD. All subgroups had significantly lower BFS than healthy references. ARM patients scored significantly lower than the healthy reference population when assessed for GIQoL. All showed significant impairment with the mental component summary (MCS) of SF-36. Patients with a successful bowel management had significantly higher scores on all three questionnaires than those with fecal accidents. Conclusion: Our results emphasize the importance of a successful bowel management and its impact on the quality of life and bowel function. Long-term follow-up is recommended with attention to mental health. [ABSTRACT FROM AUTHOR]

Cloacal exstrophy is a rare condition that occurs during the prenatal development of the lower abdominal wall. Cloacal exstrophy is also known as OEIS Syndrome because of the four features that are typically found together: Omphalocele, Exstrophy of the bladder and rectum, Imperforate anus, Spinal defects. We describe a case of 29-year-old female with 3 months’ gestation, her USG showed rudimentary right lower limb and anterior abdominal wall defect for which pregnancy was terminated and fetal autopsy was performed. This is a first case report from our institute in which the fetal autopsy finding showed features of OEIS syndrome.

Background: Anorectal malformations (ARMs) are common neonatal congenital anomalies. The prognosis of ARM patients is highly variable, and the condition itself can exert substantial psychological burdens on the parents. Thus, it is of paramount importance to raise awareness about the disease and appropriate management. Objectives: To characterize the spectrum of clinical presentation and outcome of ARMs. Methods: The present retrospective study retrieved the records of patients with ARMs admitted at a teaching hospital in Taichung City, Taiwan, between January 1, 2010, and December 31, 2019. Results: Seven children (two were males [28.57%]) with ARMs were included. Of them, three and four patients had high (42.86%) and low (57.14%) defects, respectively. Four patients (57%) had associated congenital heart disease and urogenital anomalies, and two patients (28.57%) had developmental delays. Constipation was the main clinical presentation (100%). Overall, there were no associations between gestational age, delivery modes, birth weight, associated cardiac and urogenital anomalies, constipation, body weight

Anorectal malformations (ARMs) are managed classically in three stages – colostomy at birth, anorectal pull-through after 2–3 months, and stoma closure. Single-stage pull-through has been contemplated in neonatal age aimed to reduce the number of procedures, better long-term continence, the better psycho-social status of the child, and reduced cost of treatment, especially in resource-strained countries. We conducted a systematic review comparing neonatal single-stage pull-through with stage pull-through and did a meta-analysis for the outcome and complications. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PubMed and Scopus databases were searched and RevMan 5.4.1 was used for the meta-analysis. Fourteen comparative studies including one randomized controlled trial were included in the systematic review for meta-analysis. The meta-analysis included 1845 patients including 866 neonates undergoing single-stage pull-through. There was no statistically significant difference for the occurrence of surgical site infection (odds ratio [OR] 0.82, 95% confidence interval [CI]: 0.24–2.83), urinary tract injury (OR 1.82, 95% CI: 0.85–3.89), rectal prolapse (OR 0.98, 95% CI: 0.21–5.04), anal stenosis/stricture, voluntary bowel movements (OR 0.97, 95% CI: 0.25–3.73), constipation (OR 1.01, 95% CI: 0.61–1.67), soiling (OR 0.89, 95% CI: 0.52–1.51), mortality (OR 1.19, 95% CI: 0.04–39.74), or other complications. However, continence was seen to be better among patients undergoing neonatal pull-through (OR 1.63, 95% CI: 1.12–2.38). Thus, we can recommend single-stage pull-through for managing patients with ARMs in the neonatal age.

Up to 79% of patients with anorectal malformations (ARMs) experience constipation and/or soiling after a primary posterior sagittal anoplasty (PSARP) and are referred to a bowel management program. We aim to report the recent updates in evaluating and managing these patients as part of the manuscript series on the current bowel management protocols for patients with colorectal diseases (ARMs, Hirschsprung disease, functional constipation, and spinal anomalies). The unique anatomic features of ARM patients, such as maldeveloped sphincter complex, impaired anal sensation, and associated spine and sacrum anomalies, indicate their bowel management plan. The evaluation includes an examination under anesthesia and a contrast study to exclude anatomic causes of poor bowel function. The potential for bowel control is discussed with the families based on the ARM index calculated from the quality of the spine and sacrum. The bowel management options include laxatives, rectal enemas, transanal irrigations, and antegrade continence enemas. In ARM patients, stool softeners should be avoided as they can worsen soiling. [ABSTRACT FROM AUTHOR]

Until 1982, pediatric surgeons came to a consensus that in patients with anorectal malformations (ARM), the intestine that is located caudal to the pubococcygeal line is the anal canal and, to achieve the best functional result, it must be preserved during surgery. Simultaneously with the publication of posterior sagittal anorectoplasty, it was stated that except for patients with rectal atresia and anal stenosis, patients with ARM are born without an anal canal. It is believed that the rectal pouch or fistula should be removed. We analyzed 41 articles, including 2 of our own studies, which reflect the entire palette of ideas about the pathological anatomy and physiology of ARM without a visible fistula (females and males without fistula and males with urethral fistula). On histological, manometric and radiological examinations, in most patients, the intestine located caudal to the PRM has the characteristics of a functioning anal canal. This literature review proves that most ARM patients without a visible fistula have a functioning anal canal, the preservation of which can ensure normal anorectal function. [ABSTRACT FROM AUTHOR]

Introduction: Here we report an infant with a 46,XY karyotype and novel de novo PPP1R12A stop-loss variant with a concomitant anorectal malformation (ARM) and difference in sex development (DSD). Case report: This is an infant born with ambiguous genitalia and rectoperineal fistula. Genetic testing confirmed a 46,XY chromosomal complement and whole exome sequencing demonstrated a novel de novo heterozygous PPP1R12A stop-loss variant. The infant underwent tapering jejunoplasty, proximal jejunostomy and mucous fistula creation for jejunal atresia and posterior sagittal anorectoplasty for the ARM. The gonad will be addressed with a biopsy and orchiopexy when the infant reaches six months of age. Conclusion: Although Müllerian anomalies and hypospadias may be common with ARM, a true DSD of this nature is exceedingly rare. Multidisciplinary care with urology, endocrinology, genetics, and colorectal surgery is paramount to providing optimal care for this patient.

Introduction: Congenital pouch colon (CPC) is a congenital malformation of the large bowel in which the entire large bowel or segments of varying lengths of the large bowel exhibit enormous dilatations in the form of a pouch communicating distally through a fistula with the urogenital system. CPC shows male predominance and is mainly present in the early neonatal period with the absence of anus and intestinal obstruction. We report a case of Type 2 CPC in a 16-day-old male child presenting with abdominal distension and non-passing of stool. Presentation of the case: A 16-day-old male presented with his parents with abdominal distension and an imperforate anus. A plain abdominal X-ray revealed multiple dilated bowel loops. Exploratory laparotomy revealed a Type 2 CPC. The patient was treated via 2 staged surgery and his clinical condition was stable after surgery and is being followed in 3 monthly-basis. Clinical discussion: CPC is a rare condition with male predominance and is suspected in a patient with abdominal distension and an imperforate anus. Surgical management of CPC and the outcome, as well as overall prognosis, mainly depend on the type of CPC, the length of the affected colon, type of perineum, and anorectal muscle complexity, as well as other congenital associations. Conclusion: Though being a rare syndrome, CPC must be kept as a differential diagnosis for abdominal distension and must be taken into consideration when anorectal malformation is present.

Urorectal septum malformation sequence (URSMS) is characterized by a spectrum of anomalies of the urogenital system, hindgut and perineum. It is presumed to be a constellation of an embryonic defect. Herein, we analyzed the clinically diverse syndromes associated with URSMS in our perinatal evaluation unit. We reviewed fetuses with URSMS in referrals for perinatal autopsy over a period of 3 years. Chromosomal microarray and genome sequencing were performed whenever feasible. Literature was reviewed for syndromes or malformations with URSMS. We ascertained URSMS in 12 of the 215 (5%) fetuses. Nine fetuses (75%) had complete URSMS and remainder had partial/intermediate URSMS. Eleven fetuses had malformations of other systems that included: cerebral ventriculomegaly; right aortic arch with double outlet right ventricle; microcephaly with fetal akinesia deformation sequence; ventricular septal defect and radial ray anomaly; thoraco‐abdominoschisis and limb defects; myelomeningocele; spina bifida and fused iliac bones; omphalocele; occipital encephalocele; lower limb amelia and cleft foot. We report on six fetuses with recurrent and five fetuses with unique malformations/patterns where URSMS is a component. Exome sequencing (one family) and genome sequencing (eight families) were performed and were nondiagnostic. Additionally, we review the literature for genetic basis of this condition. URMS is a clinically heterogeneous condition and is a component of several multiple malformation syndromes. We describe several unique and recurrent malformations associated with URSMS. [ABSTRACT FROM AUTHOR]

Anorectal malformations (ARMs) consist of a broad spectrum of congenital anomalies that are associated with an equally wide variety of urological abnormalities, often with increasing incidence as the severity of the ARM increases. The importance of urologic involvement in the care of ARM patients has been noted for decades and is critical from birth to adulthood. Urology must be involved in the initial evaluation and operative care of the child as well as in monitoring and managing issues such as neurogenic bladder, renal disease, and eventually sexual function and fertility. Care of the ARM patient must be done through a multidisciplinary lens, with the urologist as a key player. This review will serve as an update on the management of the urologic tract in children with ARM. [ABSTRACT FROM AUTHOR]

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). First described in 1961, this syndrome has a 2:1 female predominance and an estimated frequency of 1/50,000–1/20,000. The phenotypic spectrum of WHS is wide and encompasses multiple organ systems including intrauterine growth restriction, distinctive craniofacial anomalies, global developmental delay and intellectual disability. We present the case of a hispanic male who was born at 39 WGA via C-Section to a 28 y/o G3P1A1 mother without past medical history. The patient experienced intrauterine growth restriction which triggered further prenatal evaluation revealing a 36.14 mb terminal deletion of 4p16.3- > p14 and he was diagnosed with Wolf-Hirschhorn Syndrome. At birth, physical exam was remarkable for a wide nose, cleft lip and cleft palate, hypertelorism, micrognathia, and bilateral corneal clouding. Musculoskeletal exam showed bilateral clubbed feet and genitourinary exam revealed, bifid scrotum with undescended testes. Anorectal examination was pertinent for an imperforate anus without associated fistulas or abscess. After chest x-ray, abdominopelvic ultrasound and echocardiogram ruled out any major contraindication for surgery, he was managed with end colostomy and mucus fistula for fecal diversion. Due to history of poor feedings during the postnatal period, gastrostomy tube placement was also performed. The patient was discharged home at day 26 without immediate postoperative complications. We herein present possibly the first case of a male with WHS born with an imperforate anus that was managed surgically with end colostomy and mucus fistula. This case underscores the complexity and severity of WHS, by adding to its myriad of clinical manifestations and emphasizing the importance of reporting novel presentations and their management to improve care strategies for patients with WHS. [ABSTRACT FROM AUTHOR]

Treatment of neonates with anorectal malformations (ARMs) can be challenging due to variability in anatomic definitions, multiple approaches to surgical management, and heterogeneity of reported outcomes. The purpose of this systematic review is to summarize existing evidence, identify treatment controversies, and provide guidelines for perioperative care. The American Pediatric Surgical Association Outcomes and Evidence Based Practice Committee (OEBP) drafted five consensus-based questions regarding management of children with ARMs. These questions were related to categorization of ARMs and optimal methods and timing of surgical management. A comprehensive search strategy was performed, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to perform the systematic review to attempt to answer five questions related to surgical care of ARM. A total of 10,843 publications were reviewed, of which 90 were included in final recommendations, and some publications addressed more than one question (question: 1 n = 6, 2 n = 63, n = 15, 4 n = 44). Studies contained largely heterogenous groups of ARMs, making direct comparison for each subtype challenging and therefore, no specific recommendation for optimal surgical approach based on outcomes can be made. Both loop and divided colostomy may be acceptable methods of fecal diversion for patients with a diagnosis of anorectal malformation, however, loop colostomies have higher rates of prolapse in the literature reviewed. In terms of timing of repair, there did not appear to be significant differences in outcomes between early and late repair groups. Clear and uniform definitions are needed in order to ensure similar populations of patients are compared moving forward. Recommendations are provided based primarily on A-D levels of evidence. Evidence-based best practices for ARMs are lacking for many aspects of care. Multi-institutional registries have made progress to address some of these gaps. Further prospective and comparative studies are needed to improve care and provide consensus guidelines for this complex patient population. 3. [ABSTRACT FROM AUTHOR]

Abstract Background Diphallus (duplication of phallus) is rarely encountered in surgical practice with only 100 cases reported in literature. Some cases may be isolated but mostly associated with other anomalies, without clear data about its etiology. Case presentation We reported a 1-day-old newborn baby who was presented with complete duplication of the phallus, one of them being hypospadic associated with a high type imperforate anus, omphalocele, congenital pouch colon, sacral meningocele, and other congenital anomalies not reported before in such combinations. Multiple stages surgical corrective procedures were performed over a period of 4 years with 4–6 months interval between each stage, starting with the management of omphalocele and colostomy, ended by excision of the abnormal phallus with abdominoplasty and closure of colostomy. The outcome was evaluated, and literatures were reviewed in relation to types, presentations, and options for surgical correction with optimal outcomes. Conclusion A combination of diphallia and other abnormalities in our patient are not reported previously in such manner and were very difficult to be corrected. Only expert pediatric surgeons should treat such conditions as every case is unique in nature. In all conditions, the abnormal phallus should be excised, and the final aim is to achieve a continent child with cosmetically acceptable genitalia.

The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins. The literature review points to a multifactorial etiology in which environmental triggers interact with genetic susceptibility; in most of these cases, the defect was low in monozygotic twins, as in this dizygotic twin's case. Numerous documented familial cases pointed to an underlying genetic characteristic that is still mostly unknown, but all these cases presented as monozygotic twins, which supports the genetic factor. Our case was the first reported case in the literature of a dizygotic twin with an isolated imperforate anus who has an older sibling who presented at birth with anal stenosis.

Purpose: Limited research exists about the knowledge that adult patients have about their congenital colorectal diagnosis. Methods: This was an IRB approved, prospective study of patients in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Surveys were administered through REDCap after patients consented to being contacted for research purposes. Patients provided demographic data, which was linked to surgical records, and the diagnoses provided by patients were compared with diagnoses recorded by the original surgeons. Results: One hundred and thirty-one questionnaires were collected, 115 patients had anorectal malformations (ARM) and 16 had Hirschsprung disease (HD). Seven patients who had ARM were unaware that they had an ARM or HD. The type of ARM recorded by the surgeon was unavailable for comparison with the patient's reported diagnosis in four cases. Of the 111 remaining patients with ARM, only 32 of them (29%) knew what their own type of anomaly was. Female patients recalled their diagnosis more often than male patients (42.4% vs 13.5%). All 16 participants with HD correctly identified their diagnosis severity as HD with or without total colonic aganglionosis. Conclusion: The results of this study demonstrate patient's limited understanding of their type of ARM and highlight the urgent need to enhance communication and education strategies, such as issuing patients with medical diagnosis identification cards. It is critical for clinicians to better communicate with patients to ensure that they and their relatives truly understand their precise diagnosis. Adequately informed patients can better advocate for themselves, adhere to treatments and precautionary recommendations and navigate the complexities of transitional care. Consequently they can more effectively manage their lifelong complications. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to determine and analyze the stricture rate in patients who underwent a PSARP or PSARVUP and followed a postoperative protocol of anal dilation (Fig. 1). Methods: A retrospective review of patients with anorectal malformation (ARM) who underwent a primary PSARP or PSARVUP from February 2016 to October 2021 was performed. Data collected included patients' demographics, type of ARM, age at the time of operation, postoperative complications, with emphasis on whether there were any strictures or any difficulties during dilations, and on follow-up. During the surgical repair, emphasis was placed on preserving the blood supply of the bowel and performing a tension-free bowel-to-skin anastomosis. Results: Eighty-four patients met the inclusion criteria. Forty-four patients were females: 21 recto-perineal fistula, 12 cloaca, 9 recto-vestibular fistula, one imperforate anus without fistula, and one patient had a complex anorectal and vaginal malformation with an anal stricture and a rectovaginal fistula. Forty patients were males: 14 recto-perineal fistula, 11 recto-urethral bulbar fistula, 6 recto-urethral prostatic fistula, 6 imperforate anus without fistula, and 2 bladder neck fistula. One patient had an anal stenosis with sacral agenesis, without a presacral mass. Patient ages ranged from 0 to 79 months (mean 7.5 months, median 5 months) at the time of surgery. Follow-up time ranged from 7 to 73 months (mean 38 months, median 35 months). No patient suffered of a postoperative anal stricture. Six patients suffered of a rectal prolapse that required a surgical repair. Conclusion: Post-operative anal stricture after PSARP and PSARVUP can be avoided with proper surgical technique and postoperative care. Namely, by preserving adequate blood supply of the bowel and avoiding tension at the anoplasty, and by adhering to a structured protocol of anal dilations. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM). Study design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≥2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified. Results: The 45 ARM cases (36% females) were divided as follows: 13 neonates belonging to group 1 (29%), 8 to group 2 (18%), and 24 to group 3 (53%). Cases were equally distributed over 11 years. Krickenbeck anatomy was: without fistula/imperforate anus (18%), perineal fistula (36%), rectourethral fistula (4%), rectovesical fistula (2%), vestibular fistula (4%), cloaca (4%), and rare ARMs (31%). Groups showed differences in anthropometric data, Krickenbeck anatomy, and intensive care burden. Additional major congenital abnormalities were prevalent specific of VATER/VACTERL spectrum (vertebral/anorectal/cardiac/tracheoesophageal/renal/limb defects), but also Hirschsprung disease was found in 3/20 biopsies (15%). The most frequent minor abnormality was a single umbilical artery. In group 3, we identified four de novo microdeletions at 8p23.2, 8q13.3, Xp22.31-p22.2, Xq28, four de novo microduplications at 1p36.32, 6p24.1-p23, 13q14.11, 15q11.2, one microdeletion at 9q33.1 inherited from the affected mother, one microdeletion at 7q35 inherited from the unaffected father, one structurally uncharacterized rearrangement involving 9p23-q34.3. Thus, we attributed the Xq28 deletion with inactivated FAM58A gene in one girl to the X-linked dominant STAR syndrome (toe syndactyly-telecanthus-anogenital/renal malformations). Conclusions: Despite the great physical and social burden on ARM patients and their parents, in the majority of cases, the etiology is largely unknown and attributed to be multifactorial. In females, STAR syndrome should be part of the differential diagnosis. Associated malformations of other organ systems interact in outcome parameters. [ABSTRACT FROM AUTHOR]

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Objective: To assess the frequency of various types of gastrointestinal abnormalities in patients with Down's syndrome. Study Design: Cross Sectional Study. Setting: National Institute of Child Health, Karachi. Period: January 2019 June 2019. Material & Methods: All children with age 1 month to 16 years with Down's syndrome of either gender presented with gastrointestinal signs and symptoms were enrolled. History along with demographic information was obtained from parent and GI examination was done. The outcome variables like duodenal stenosis, gastrophageal reflux, imperforate anus and Hischsprung's disease were noted. Results: The mean age of the children was 8.53+4.07 years. The mean terminal age at the time of delivery was 30.70+3.60 years. The mean number of siblings was 1.08+0.91. Duodenal stenosis was found in 18(6.40%) patients, gastroesophageal reflux was found in 10(3.50%) patients, imperforate anus in 9(3.10%) and Hischsprung's disease was found in 7(2.40%) children. Conclusion: Duodenal stenosis was the most common gastrointestinal (GI) abnormalities found in patients with down's syndrome. [ABSTRACT FROM AUTHOR]

Background: Surgical vaginoplasty is a highly successful treatment for congenital absence of the vagina. One key to long-term success is the use of an appropriate vaginal mold in the immediate postoperative period. We present the use of a three-dimensional (3D)-printed vaginal mold, customizable to the anatomy of individual patients.Technique: Vaginal molds were designed using a 3D modeling software program. The design included narrowing around the urethra, holes for egress of secretions, and a knob for insertion and removal. Dental resin was 3D-printed into various-sized vaginal molds, and postprocessing was performed.Experience: We present the use of the 3D-printed mold for a patient with a history of cloacal exstrophy and a unique pelvic shape. Two prior neovagina surgeries in this patient had been unsuccessful due to ineffective handheld dilator use; the patient experienced success with the 3D-printed intravaginal mold.Conclusion: The use of the 3D-printed vaginal mold is an alternative to the limited commercially available models today and allows for customization to user anatomy. With 3D printers becoming more widely accessible, we believe this method could become universally accepted, with hopes of contributing to increased patient satisfaction and decreased complications. [ABSTRACT FROM AUTHOR]

Pathogenic variants in NOTCH2 which encodes a single‐pass transmembrane protein have been identified as a cause of several autosomal dominant congenital disorders. In particular, truncating mutations in exon 34 have been found in patients with skeletal abnormalities and dysmorphic features. We describe a patient with a de novo variant in NOTCH2 who displayed features of both Hajdu–Cheney syndrome (HJCYS) and serpentine fibula‐polycystic kidney syndrome (SFPKS). The recurrent nonsense variant in exon 34 has been reported in seven other patients with syndromic presentations, making it the most common pathogenic variant for NOTCH2 in congenital disorders. In addition to the core features of HJCYS and SFPKS, there was a gastrointestinal tract malformation of an imperforate anus which has not been reported in patients with pathogenic variants in NOTCH2. [ABSTRACT FROM AUTHOR]