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Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study. [ABSTRACT FROM AUTHOR]

Objective: Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. Study design: All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. Results: Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p

Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery. All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups. Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039). Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery. III retrospective comparative study. [ABSTRACT FROM AUTHOR]

Abstract Background In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant’s life. Results Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called ‘pig bronchus’ and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Conclusion Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.

Background: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant's life. Results: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called 'pig bronchus' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical. Conclusion: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies. SALL4 encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning SALL4 who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of SALL4 deletion, in addition to a previously reported patient with VACTERL association phenotype and SALL4 nonsense mutation, further supports the notion that SALL4 haploinsufficiency can lead to VACTERL association. [ABSTRACT FROM AUTHOR]

This case series presents a rare and complex clinical entity involving VACTERL association overlapping with hydrocephalus, caudal regression syndrome, and bilateral amelia. Three cases of fetuses with multiple congenital anomalies were identified, including hydrocephalus, esophageal atresia, omphalocele, imperforate anus, single umbilical artery, and bilateral lower limb amelia. Radiographic and anatomical evaluations confirmed the presence of these anomalies, highlighting the complexity and severity of the condition. Genetic and environmental factors were implicated in the pathogenesis, with potential implications for familial recurrence and genetic counseling. Management of such cases requires a multidisciplinary approach, emphasizing early detection, accurate diagnosis, and appropriate intervention to optimize outcomes. Further research is needed to elucidate the underlying mechanisms and identify potential therapeutic targets for improving outcomes in affected individuals. This case series underscores the importance of interdisciplinary collaboration and ongoing surveillance in the diagnosis and management of rare congenital anomalies. [ABSTRACT FROM AUTHOR]

VACTERL association is defined as the nonrandom co‐occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence. [ABSTRACT FROM AUTHOR]

Background: Bronchopulmonary foregut malformation (BPFM) is a rare congenital anomaly characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. Srikanth et al. reported that BPFMs can be categorized into four groups, and that an unclassified BPFM is extremely rare. Herein, we present an unclassified BPFM group III and IV subtype in a 2-year-old girl. Case presentation: At a gestational age of 36 weeks, a 1535-g female neonate was born as one of the dichorionic diamniotic twins. She had vertebral abnormality, anovestibular fistula, pulmonary artery sling, small right lung, mediastinal shift with dextrocardia, tracheal stenosis, and radial hemimelia. After birth, she was diagnosed with VACTERL association. She exhibited consolidation of the right upper lobe (RUL) in the neonatal period; however, she had no respiratory symptoms and was kept under observation in an outpatient visit. At 24 months, she was urgently admitted with acute pneumonia, and the upper gastrointestinal series revealed the right upper bronchus arising from the lower esophagus. Therefore, she underwent RUL resection. Intraoperatively, the right lung had no lobulations. RUL was ventilated by the esophageal bronchus (BPFM group III); however, the S6 lesion was ventilated by both the normal bronchial system and esophageal bronchus (close to BPFM group IV). The S6 lesion did not satisfy the definition of group IV as it did not have systemic blood supply. Hence, we decided to preserve the S6 lesion to save lung capacity as much as possible. The esophageal bronchus was transected using a 5-mm stapler. Due to lobulation failure, RUL was resected using an electric scalpel and 5-mm staplers along with the demarcation line by ventilation from the normal bronchus. The postoperative course was uneventful, and the patient could regain oral function without pneumonia or respiratory distress. Conclusions: For neonates with repeated consolidation and pneumonia, BPFM must be considered as one of the differential diagnoses. Regarding BPFM treatment, early recognition and imaging are necessary. To determine the resection area of the lung, it is crucial to consider the segment of ventilation from the normal bronchi. [ABSTRACT FROM AUTHOR]

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60–80% of cases. Tracheo-esophageal fistula is seen in 50–80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40–50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling. [ABSTRACT FROM AUTHOR]

VACTERL association is a rare malformation complex consisting of vertebral defects, anorectal malformation, cardiovascular defects, tracheoesophageal fistulae with esophageal atresia, renal malformation, and limb anomalies. According to current knowledge, VACTERL is based on a multifactorial pathogenesis including genomic alterations. This study aimed to improve the understanding of the genetic mechanisms in the development of VACTERL by investigating the genetic background with a focus on signaling pathways and cilia function. The study was designed as genetic association study. For this, whole-exome sequencing with subsequent functional enrichment analyses was performed for 21 patients with VACTERL or a VACTERL-like phenotype. In addition, whole-exome sequencing was performed for three pairs of parents and Sanger-sequencing was performed for ten pairs of parents. Analysis of the WES-data revealed genetic alteration in the Shh- and Wnt-signaling pathways. Additional performed functional enrichment analysis identified an overrepresentation of the cilia, including 47 affected ciliary genes with clustering in the DNAH gene family and the IFT-complex. The examination of the parents showed that most of the genetic changes were inherited. In summary, this study indicates three genetically determined damage mechanisms for VACTERL with the potential to influence each other, namely Shh- and Wnt-signaling pathway disruption, structural cilia defects and disruption of the ciliary signal transduction. [ABSTRACT FROM AUTHOR]

Each letter of the mnemonic VACTERL stands for one or more types of malformation. It is defined by the presence of at least 3 of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. It is an association rather than a syndrome. Due to multiple congenital anomalies of different systems, anesthesia management of these patients can be challenging. Here, we present a case of a 14-year-old patient with VACTERL association posted for deceased donor renal transplantation under general anesthesia. Our article describes the uneventful perioperative course of the patient and highlights the concerns and complications in anesthesia management of a patient with VACTERL association. [ABSTRACT FROM AUTHOR]

Summary: A parturient with VACTERL association (vertebral defects, anal atresia, cardiac defects, trachea‐oesophageal fistula, renal abnormalities and limb abnormalities) was listed for an elective caesarean section. She had a short neck with reduced cervical extension and flexion. Magnetic resonance imaging of her whole spine was performed which showed failure of cervical spine segmentation and cervical stenosis. Neuraxial blockade could have resulted in unpredictable spread of local anaesthetic due to the low volume of the spinal canal, and could have caused myelopathic changes within the spinal cord due to cerebrospinal fluid pressure changes. A general anaesthetic using a rapid sequence induction was also predicted to be challenging due to her fixed, unstable neck and severe cervical spine stenosis. After a multidisciplinary discussion Including neurosurgeons, we planned for awake tracheal intubation followed by general anaesthesia. However, before the date of her planned delivery, she required an urgent caesarean section due to severe preeclampsia. This was performed under general anaesthesia following uncomplicated awake tracheal intubation. [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]

Horseshoe lung (HL) is a rare congenital anomaly that has been classically associated with Scimitar syndrome. Very few cases have been described in the context of the VACTERL spectrum. We present a case of a newborn girl with mesocardia, tracheoesophageal fistula, and imperforated anus, who required O2 support at birth and during hospitalization. A chest CT angiography revealed a HL as an incidental finding. We suspect that HL and the VACTERL spectrum, are not separated entities but likely a further expansion of VACTERL-associated symptoms. HL might be underdiagnosed in asymptomatic patients as Chest CT angiography is not part of the routine work up for patients with VACTERL association.

Polydactyly of the hand is a common anomaly among pediatrics, which can present in conjugation with other syndromes or on its own. Various types can be seen, ranging from the involvement of skin only to a completely formed digit. We report the first case of pacifier type thumb duplication presenting with VACTERL association. Herein, we also summarize the existing literature of the distinctive features and management of pacifier polydactyly. A premature male infant with intrauterine growth restriction due to maternal type II diabetes was referred for a soft tissue attachment to the left hand. The infant showed VACTERL association signs, including a single kidney, small atrial septal defect, and ventricular septal defect. Examination revealed preaxial polydactyly with a cystic swelling connected to the palm. Preaxial polydactyly is the second most common congenital hand anomaly, and its pathology is thought to involve the disruption of apoptosis during embryonic development. Pacifier-type polydactyly is a unique variation characterized by severe edema of the soft tissue digit, believed to be caused by physical damage in utero. The case presented did not require surgical intervention as the duplicated thumb underwent spontaneous autoamputation as opposed to other cases in the literature. This is the first reported case of pacifier-type thumb duplication in a patient with VACTERL association. The presentation of this condition adds to the existing body of literature on VACTERL association. Surgical removal is the treatment of choice for pacifier polydactyly, but spontaneous resolution can occur. • The first reported case of pacifier-type thumb duplication with VACTERL association in a male newborn. • Our case did not require surgical intervention as the thumb went spontaneous autoamputation. • Thumb duplication or preaxial polydactyly has been associated with various syndromes, such as VACTERL syndrome. [ABSTRACT FROM AUTHOR]

The combination of vertebral, anal, cardiac, tracheo-esophageal, renal and limb anomalies termed VACTERL association, also referred to as VATER, has been used as a clinical descriptor and more recently, a diagnosis of exclusion, for a specific group of phenotypic manifestations that have been observed to co-occur non-randomly. Though the causes remain elusive and poorly understood in most patients, VACTERL association is thought to be due to defects in early embryogenesis and is likely genetically heterogeneous. We present data on 36 patients diagnosed with VACTERL association in addition to describing the phenotypic diversity of each component feature. Unique cases in our cohort include a patient with a 498.59 kb microdeletion in the 16p11.2 region and another with a 215 kb duplication in the 3p25.2 region. Our findings expand upon the current understanding of VACTERL association and guide future research aimed at determining its etiology.

Purpose: Mayer-Rokitansky-Küster-Häuser syndrome (MRKH) usually presents with primary amenorrhea after puberty. The present study clarified the clinical features of MRKH diagnosed at under 16 years old.Methods: We conducted a questionnaire survey to determine the status of MRKH in Japan. Twenty-one MRKH patients were enrolled, and the patient background and clinical features were analyzed.Results: The median age at the diagnosis was 2.6 [1.0-9.0] years. Three patients (14.3%) were diagnosed with type I MRKH, while 18 (85.7%) were diagnosed with type II. The associated anomalies included (some cases overlapped): anorectal malformation (ARM) (n = 13, 72.2%), renal malformation (n = 12, 66.7%), vertebral malformation (n = 11, 61.1%), esophageal atresia (n = 5, 27.8%), and cardiac malformation (n = 4, 22.2%). The comparison of patients with and without ARM revealed that patients with ARM were significantly younger than those without ARM at the time of the diagnosis (1.5 [1-2.6] years vs. 9.1 [8.2-11.7] years, p < 0.05). Associated ARM was the most frequent reason for the diagnosis of MRKH (n = 10, 47.6%).Conclusions: MRKH patients with some associated anomalies, especially ARM, were frequently diagnosed in preoperative imaging examinations or radical operation for ARM. Pediatric surgeons should pay close attention to female patients with ARM to prevent errors in the diagnosis of MRKH. [ABSTRACT FROM AUTHOR]

Oesophageal atresia and tracheo-oesophageal fistula is a congenital structural abnormality that affects 1:4500 live infants. It is due to failure of the primitive foregut tube to separate correctly into oesophagus and trachea. About 50% have associated abnormalities, of which the VACTERL (Vertebral, Anorectal, Cardiac, Tracheo-oEsophageal, Renal and Limb) association is the most common. Prematurity is common and all have some degree of tracheomalacia. Surgery of the common type can be performed through a fourth interspace thoracotomy or by thoracoscopy. It involves division of the distal tracheo-oesophageal fistula and anastomosing together the two ends of the oesophagus. The absence of a distal fistula reveals itself as a "gasless abdomen" on plain radiology, and usually indicates a long gap between the blind oesophageal ends: this sometimes necessitates an oesophageal replacement if extensive oesophageal mobilization fails to achieve an end-to-end anastomosis of the oesophagus. Potential post-operative problems include anastomotic leak, anastomotic stricture, recurrence of the fistula, gastro-oesophageal reflux, oesophageal dysmotility, and food impaction. Survival is determined mainly by coexisting congenital abnormalities. The long-term risk of oesophageal malignancy is yet to be established. Isolated tracheo-oesophageal fistula ("H fistula") can occur without atresia, and often presents after feeding has commenced. It is divided through a cervical incision. [ABSTRACT FROM AUTHOR]

Vertebral defects, anorectal anomalies, cardiac anomalies, tracheoesophageal fistula (TEF)/esophageal atresia, renal anomalies, and limb abnormalities (VACTERL) association is a rare congenital disorder presenting with a constellation of birth defects. The diagnosis is primarily clinical, and patients exhibit at least three of these anomalies. These patients' management involves a multidisciplinary approach tailored to the individual's condition. Anesthetic management is particularly challenging due to the diverse and complex anomalies. This article discusses the anesthetic management of a term newborn male (39 weeks, six days gestation, 3340 g) diagnosed with VACTERL association. The newborn was admitted to the neonatal intensive care unit (NICU) and scheduled for the surgical repair of TEF and derivative colostomy on the second day of life. To mitigate the risk of air leak and abdominal distension from positive pressure ventilation, a derivative colostomy was performed first under regional anesthesia preserving spontaneous ventilation. To achieve that, the patient was sedated with ketamine and dexmedetomidine, and an ultrasound-guided single-shot caudal block with ropivacaine was performed. Post-abdominal decompression, general anesthesia was induced, and intubation was managed via videolaryngoscopy. Thoracoscopic TEF repair required several pauses for ventilation and hemodynamic optimization. Dopamine was administered intraoperatively for blood pressure support. The newborn was extubated and started on enteral feeding by the seventh postoperative day, progressing well by the time of discharge. In this case, a derivative colostomy before TEF repair avoided positive pressure ventilation complications. Ultrasound-guided caudal block provided effective regional anesthesia with high success rates. Ketamine and dexmedetomidine offered balanced sedation with minimal respiratory compromise. Dopamine was used effectively to maintain adequate perfusion, monitored with invasive blood pressure and cerebral oximetry. Anesthetic management of newborns with VACTERL association undergoing simultaneous repair of TEF and anal atresia demands meticulous and tailored planning to address the specific needs and minimize associated risks. This case highlights the importance of comprehensive anesthetic management and its impact on the patient's outcome., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Costa et al.)

Organogenesis is a period of fetal development with a special vulnerability to biological and environmental agents. There are some viral infections whose transmission in the first trimester carries a significant risk for the development of congenital anomalies. Although the possibility of vertical transmission of SARS‐CoV‐2 during pregnancy has been demonstrated, there are no studies evaluating the impact of SARS‐CoV‐2 infection in the first trimester and its possible association with congenital anomalies. In this communication, we present the case of a pregnant woman with early SARS‐CoV‐2 infection, prenatally diagnosed with fetal VACTERL association by mid‐trimester ultrasound. Further studies are needed to determine the causal association. [ABSTRACT FROM AUTHOR]

Objective: We reported a fetus that presenting with persistent left superior vena cava (PLSVC), polyhydramnios, and a small gastric bubble during prenatal examination and identified VACTERL association after birth. Case report: A 34-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age and the result was normal. Subsequently, an ultrasound revealed single umbilical artery (SUA) at 21 weeks of gestation. She received a detailed fetal anatomy survey that presented the same findings and PLSVC. A small visible gastric bubble was noted at that time, and the other organs were unremarkable. Polyhydramnios was identified at 30 weeks of gestation and amnioreduction was subsequently performed at 32 weeks of gestation. However, polyhydramnios was persisted despite amnioreduction and intrauterine growth restriction was also detected. A cesarean section was performed because of fetal distress at 36 + 2 weeks, and a 1832-g female baby was delivered. Pre-axial polydactyly at left thumb, SUA and esophageal atresia with distal tracheoesophageal fistula (TEF) were identified after birth. The neonate died at age of 4 days because of surgical complication following esophageal anastomosis. Conclusion: Prenatal diagnosis of PLSVC associated with polyhydramnios and a small gastric bubble may indicate esophageal atresia with TEF, and further examination for associated syndromes such as VACTERL association is warranted.

VACTERL association is a rare malformation complex consisting of vertebral defects, anorectal malformation, cardiovascular defects, tracheoesophageal fistulae with esophageal atresia, renal malformation, and limb anomalies. According to current knowledge, VACTERL is based on a multifactorial pathogenesis including genomic alterations. This study aimed to improve the understanding of the genetic mechanisms in the development of VACTERL by investigating the genetic background with a focus on signaling pathways and cilia function. The study was designed as genetic association study. For this, whole-exome sequencing with subsequent functional enrichment analyses was performed for 21 patients with VACTERL or a VACTERL-like phenotype. In addition, whole-exome sequencing was performed for three pairs of parents and Sanger-sequencing was performed for ten pairs of parents. Analysis of the WES-data revealed genetic alteration in the Shh- and Wnt-signaling pathways. Additional performed functional enrichment analysis identified an overrepresentation of the cilia, including 47 affected ciliary genes with clustering in the DNAH gene family and the IFT-complex. The examination of the parents showed that most of the genetic changes were inherited. In summary, this study indicates three genetically determined damage mechanisms for VACTERL with the potential to influence each other, namely Shh- and Wnt-signaling pathway disruption, structural cilia defects and disruption of the ciliary signal transduction.

Introduction:  The VACTERL association is a rare malformation complex, showing at least three anomalies of the following organ systems: vertebra, anorectum, heart and vessels, trachea and esophagus, genitourinary tract, and limbs. In addition to a multifactorial event, congenital vascular disorders are also discussed as triggers for the VACTERL association. The aim of this study was to determine whether there is a genetic background for vascular disorders triggering VACTERL association.Materials and Methods:  We performed a functional analysis on whole exome sequencing data of 21 patients with VACTERL or VACTERL-like phenotype using the online analysis tool "Database for Annotation, Visualization and Integrated Discovery (DAVID) v6.8." The study was approved by the institutional ethics committee (approval no. 026-13). Written informed consent was obtained from all patients or their parents.Results:  We identified a total of 86 genetic variants (in 75 genes) classified as damaging (including probably damaging missense, nonsense, and frameshift variants), which are associated to cardiovascular development. Each investigated patient showed at least one damaging variant in genes associated to cardiovascular development. These variants were further reduced by significance in cardiovascular development to 39 genetic variants (in 33 genes). Of note, a pair of siblings, both presenting with cardiac and renal defects, had the same damaging variant in two different genes.Conclusion:  Our results indicate a genetic background for congenital vascular disorders in patients with VACTERL association. In line with the literature, our data suggest that genetic mutation led to vascular diseases, which in turn may cause malformations similar to the VACTERL association. [ABSTRACT FROM AUTHOR]

The association of VACTERL (it is an acronym, V= vertebral anomalies, A= anal atresia, C= cardiac defects, T= tracheal anomalies, E= esophageal atresia, R= renal anomaly, L= other limb anomalies) is rare, however, it is a pathology with a high associated Morbi-mortality. This is a 30-year-old male patient with VACTERL's association, who has exceeded his life expectancy, based on his diagnosis. However, he has not escaped unscathed, since he is suffering from stage 4 chronic kidney disease and is under treatment for arterial hypertension and serial JJ catheter replacement. [ABSTRACT FROM AUTHOR]

Vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula or atresia, renal anomalies, and limb abnormalities (VACTERL) association is a complex congenital condition characterized by the presence of malformations that affect various organ systems. Most children born with VACTERL association require surgery shortly after birth, often undergoing multiple procedures during infancy, which can lead to a wide range of physical challenges. The unique combination of malformations in these children in addition to having complex care needs that need to be met can result in physical and social difficulties in their daily lives, affecting both their own and their caregivers' quality of life. In some cases, children with complex medical needs are placed in foster care. When children with complex health needs enter the foster care system, there is a risk of overwhelming the caretaker, leading to their needs continuing to be unmet. Pediatricians have a role not only in helping support families but also in knowing what resources are available to meet these needs, which can be dependent on what their communities offer. Pediatricians require current training to navigate their state's foster care system. This training allows pediatricians to effectively collaborate with foster families while also assisting and coordinating complex care to support these families. We present a case of a child with complex health needs placed in the foster care system, facing multiple healthcare challenges, with care delayed due to difficulty attending appointments. Highlighted is the importance of delivering supportive, personalized, and multidisciplinary care to families with children who have complex health needs, including when caretakers are within the foster care system., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Gregg et al.)

The article informs about anorectal malformations (ARMs) as a significant portion of congenital anomalies in pediatric surgery, encompassing a wide range of defects from minor to complex cases often accompanied by other anomalies. Topics include the incidence of associated anomalies, a retrospective descriptive study on neonates with ARMs, and the management approach including surgical repair and potential outcomes.

VACTERL represents an acronym for a broad spectrum of congenital anomalies such as vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies. We present the case of a male fetus with multiple anomalies consistent with VACTERL association such as scoliosis, imperforate anus, common truncus arteriosus, tracheoesophageal fistula associated with inferior esophagus atresia, polycystic kidneys, with short right ureter, lower limb hypoplasia micrognathia, hygroma, duodenal atresia, and cloacal malformation, with an aberrant omphalomesenteric duct. The presented case highlights the crucial importance of pathologists specialized in the dissection and confirmation of fetal abnormalities as an essential part of the multidisciplinary team that establishes the management of complicated pregnancies with this type of pathology. [ABSTRACT FROM AUTHOR]

Anal atresia is the most common malformation occurring in VACTERL association, but it is difficult to diagnose antenatally. We herein present a case of fetal anal atresia in VACTERL association diagnosed by ultrasonography and supported by autopsy. This case emphasizes the clues to ultrasonographic diagnosis of anal atresia at 11–13+6 weeks of gestation, promoting increased awareness of VACTERL association during first‐trimester screening. [ABSTRACT FROM AUTHOR]

Persistent left superior vena cava is the most common congenital anomaly of the thoracic venous system. In most cases, the left vena cava drains into the coronary sinus and remains asymptomatic. When draining in the left atrium, paradoxical embolization could be a severe complication of the right-to-left shunt and is an indication for surgery. We describe the thoracoscopic approach for ligation of a persistent left superior vena cava in a 9 years old girl with VACTERL association and a history of stroke. Bilateral superior vena cava connected by a bridging vein allowed simple ligature of the abnormal systemic venous return.

Abstract Background Scimitar syndrome is a rare form of partial anomalous pulmonary venous drainage associated with pulmonary hypertension and congestive heart failure that may lead to death in the newborn infant. Although it is described with anomalies of the lung, heart and their vascular structure, extremely rare association with imperforate anus had been reported. The third case of Scimitar syndrome and imperforate anus will be reported in this case report. Case presentation A 3 days old male neonate with imperforate anus presented with abdominal distention. Loop colostomy was done to relieve abdominal distension. The chest x-ray revealed a curved shadow on the right mid lung zone extending to the diaphragm abutting and indenting the inferior vena cava (scimitar sign). Abdominal ultrasound, transthoracic echocardiography and computerized tomographic angiography confirmed the presence of Scimitar vein and associated dextro-position of the heart, hypoplastic right lung, hypoplastic right pulmonary artery, secundum atrial septal defect with bidirectional shunt, patent ductus arteriosus, pulmonary hypertension, left superior vena cava, and systemic collateral arteries feeding the lower lobe of the right lung. The rare association of scimitar syndrome with imperforate anus is discussed. Conclusion Scimitar syndrome associated with imperforate anus with and without VACTERL association has been reported previously only in four cases. The knowledge of association between imperforate anus and Scimitar syndrome helps for early detection and management of cases. It is recommended to have high index of suspicion in every newborn with imperforate anus to check for symptoms of dextro-position of the heart, right lung hypoplasia which may be indicate scimitar syndrome.

Abstract 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.

Tetralogy of Fallot (TOF) and VACTERL are considered rare entities requiring medical attention with regards to diagnosis and management. When TOF is associated with VACTERL association, case management might differ from a simple case of TOF. Tetralogy of Fallot (TOF) is defined as a complex congenital cardiac abnormality characterized by ventricular septal defect, right outflow tract obstruction, right ventricular hypertrophy, and overriding aorta.1 The term was coined in 1888 by Fallot of Marseilles, even though the defect had been described in 1673 by Steno of Denmark. The entity was then studied extensively to deliver better care management through medical and surgical approaches.2

Purpose We evaluated the various accompanied malformations in patients with anal atresia or tracheoesophageal fistula (TEF). Furthermore, we determined the prevalence of VACTERL association and compared the clinical findings with those of patients without VACTERL association. Methods: We enrolled the patients with anal atresia or TEF with/without esophageal atresia. We collected the patient data pertaining to accompanied vertebral, cardiovascular, renal or limb anomalies, single umbilical artery, maternal diabetes mellitus or drug history, and gene research. Results: A total 155 patients (65 boys and 90 girls) were enrolled with 147 cases of anal atresia, 3 cases of TEF, and 5 cases of anal atresia with TEF. The prevalence of accompanied anomalies was 67.1% in cardiovascular, 27.1% in renal, 9.7% in vertebral, 2.6% in limb anomalies, and 3.9% in single umbilical artery. Thirty‐six (23.2%) patients were diagnosed with VACTERL association. The patients with VACTERL association had a significantly higher number of male patients (58.3 vs. 37.0%, p =.033) and single umbilical artery (11.1 vs. 1.7%, p =.026), and had a significantly lower birth weight (2.8 vs. 3.1 kg, p =.033) than the patients without VACTERL association. Genetic studies were performed in 111 patients, and 8 (7.2%) had chromosomal abnormalities—3 in VACTERL and 5 in no VACTERL group. Conclusion: We recommend a careful evaluation for VACTERL association in patients with anal atresia or TEF. It is particularly important to screen for a single umbilical artery for features of VACTERL association as well as for other congenital anomalies. [ABSTRACT FROM AUTHOR]

Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb‐body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co‐occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%–50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal. [ABSTRACT FROM AUTHOR]

Background: Lipomyelomeningocele associated with an ulnar club hand in the spectrum of VACTERL association ([costo-]vertebral abnormalities; anal atresia; cardiac defects; tracheal-esophageal abnomalities, including atresia, stenosis, and fistula; renal and radial abnormalities; limb abnormalities; single umbilical artery) is a very rare and infrequently reported phenomenon. Within the fat mass of the lipoma, it is not common to find a well-defined cartilaginous mass with no attachments to the surrounding tissue., Observations: The authors present the case of a 3-month-old male with low-back swelling that was off-center to the left, accompanied by a left short forearm displaying outward bowing. Echocardiography showed an atrial septal defect. This rare VACTERL association comprises lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency syndrome. During surgical intervention for the lipoma, a well-defined cartilaginous mass was discovered within the adipose tissue., Lessons: The manifestation of VACTERL association can be partially explained by the Shh/Gli and Wnt pathway defects. It is prudent to screen children with neural tube defects to be aware of any associated syndromes. This case is very rare, and the literature has contained no prior report on the VACTERL association of lipomyelomeningocele, atrial septal defect, and ulnar longitudinal deficiency.

Background: Esophageal Atresia (EA) with or without associated tracheo-esophageal fistula (TEF) is one of the common congenital anomaly that can be life threatening if left unattended. In low and middle income countries like Pakistan, the management and outcome of such type of cases depends upon many factors related to resource limitation. Objective: To prospectively evaluate the management and outcome of esophageal atresia at Children Hospital, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan. Study design, settings and duration: An Observational- descriptive study was conducted at the Department of Pediatric Surgery, The Children Hospital, PIMS, Islamabad from October 2017 to August 2018. Methodology: Consecutive patients diagnosed with esophageal atresia were included in the study. Demographic data, investigations, procedure performed and outcome were collected on a pre designed proforma and results were analysed. Results: Total 140 consecutive patients of esophageal atresia were enrolled in study. Out of 140 patients, 79 (56.4%) were male and 61 (43.6%) were female. Mean age at presentation of esophageal atresia was 5.5 days (ranged from 1-30 days). Mean weight was 2.43 kg. Regarding type of esophageal atresia, 10 (7.1%) patients had type A, 97 (69.3%) had type C, 1 (0.7%) had type E and 1 (0.7%) had type F esophageal atresia. Nine patients with type A underwent cervical esophagostomy along with feeding gastrostomy. Right thoracotomy was performed in 98 cases. End to end esophageal anastomosis was possible in 76 patients. Twenty one patients had long gap EA for which cervical esophagostomy and feeding gastrostomy was done. Sepsis was the main complication post operatively (29.3%) followed by pneumonia (14.3%), Anastomotic leak (7.9%) and surgical site-infection (2.1%). Overall mortality was 57.9% (81/140) with pre operative mortality of 21.4% (30/140) and post operative mortality of 36.5% (51/140). Low birth weight and post operative sepsis, anastomotic leak and pneumonia had statistically significant relationship with mortality using SPSS version 21. Conclusion: With the improvement of medical facilities, better survival rates of patients with esophageal atresia can be achieved.

Vertebral, anal, cardiac, tracheo-esophageal fistula, renal and limb (VACTERL) association is defined as a condition including at least three of the above-mentioned anomalies in the same infant. Several cardiac defects that have been reported as a part of the VACTERL association are ventricular and atrial septal defects, hypoplastic left heart syndrome, transposition of the great arteries and tetralogy of Fallot. Anomalous origin of pulmonary artery (AOPA) from the ascending aorta is an unusual and critical cardiovascular anomaly, which frequently involves the right pulmonary artery (RPA). A male neonate was delivered by normal spontaneous vaginal delivery at 39 weeks and 3 days gestation, weighting 2660 gm. He was diagnosed with VACTERL association with five abnormalities: vertebral abnormalities, anal atresia, cardiovascular anomaly (right pulmonary artery originating from ascending aorta), tracheo-esophageal fistula and renal anomalies. AOPA origination from ascending aorta as part of the VACTERL association in a neonate is a rare congenital cardiovascular malformation. Here we present a rare case of RPA originating from the ascending aorta seen with VACTERL association in a neonate.

Abstract Background The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. Methods Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). Results We recruited 67 infants with EA (with or without tracheoesophageal fistula), distributed in groups as follows: A 31.3%, B 16.4%, C 26.8% and D 25.3%. Type of atresia was not statistically different among different groups. Mortality was higher in groups C and D, especially if associated with congenital heart defects. In survivors, we found different auxological evolution and prognostic profiles considering duration in days of invasive mechanical ventilation and total parenteral nutrition, as well as length of stay and corrected gestational age at discharge. Conclusions In the context of genetic and syndromic entities, subjects with VACTERL association showed a lower mortality rate although a higher and more complex level of intensive care was noted in comparison to infants without VACTERL genetic and syndromic entities.

VACTERL association is sporadic and nonrandom, with co-occurrence of various congenital malformations in a single patient due to defect in structures derived from embryonic mesoderm. The VACTERL association with pulmonary agenesis is very rare; few cases have been reported only in neonates till now in the past, as most babies could not survive longer. However, we present a rare case of VACTERL association with left pulmonary agenesis in a 9-month-old infant.