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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]

Introduction: Primary cilia play pivotal roles in the patterning and morphogenesis of a wide variety of organs during mammalian development. Here we examined murine foregut septation in the cobblestone mutant, a hypomorphic allele of the gene encoding the intraflagellar transport protein IFT88, a protein essential for normal cilia function. Results: We reveal a crucial role for primary cilia in foregut division, since their dramatic decrease in cilia in both the foregut endoderm and mesenchyme of mutant embryos resulted in a proximal tracheoesophageal septation defects and in the formation of distal tracheo(broncho)esophageal fistulae similar to the most common congenital tracheoesophageal malformations in humans. Interestingly, the dorsoventral patterning determining the dorsal digestive and the ventral respiratory endoderm remained intact, whereas Hedgehog signaling was aberrantly activated. Conclusions: Our results demonstrate the cobblestone mutant to represent one of the very few mouse models that display both correct endodermal dorsoventral specification but defective compartmentalization of the proximal foregut. It stands exemplary for a tracheoesophageal ciliopathy, offering the possibility to elucidate the molecular mechanisms how primary cilia orchestrate the septation process. The plethora of malformations observed in the cobblestone embryo allow for a deeper insight into a putative link between primary cilia and human VATER/VACTERL syndromes. Key Findings: Identifies Ift88 as a gene responsible for trachea‐esophageal septation.Identifies primary cilia as essential for the trachea‐esophageal septation process.Proposes a novel mechanism for cilia‐dependent septation. [ABSTRACT FROM AUTHOR]

Introduction: VACTERL is defined as 3 or more of the following congenital defects: vertebral, anorectal, cardiac, tracheoesophageal (TE), renal, and limb. The purpose of this study was to create an easy-to-use assessment tool to help providers counsel expecting families regarding the likelihood of additional anomalies and postnatal outcomes. Methods: Employing the Kids' Inpatient Database from 2003–2016, neonates (<29 days old) with VACTERL were identified using ICD-9-CM and ICD-10-CM codes. For each unique combination of VACTERL, multivariable logistic regression was used to estimate inpatient mortality, and Poisson regression was used to estimate length-of-stay during the initial hospitalization. Results: The assessment tool used in this study is available at https://choc-trauma.shinyapps.io/VACTERL. 1,886 of 11,813,782 (0.016%) neonates presented with VACTERL. 32% weighed <1,750 g, and 239 (12.7%) died prior to discharge. Associated with mortality were limb anomaly (1.8 [1.01–3.22], p < 0.05), prematurity (1.99 [1.14–3.47], p < 0.02), and weight <1,750 g (2.19 [1.25–3.82], p < 0.01). Median length-of-stay was 14 days (IQR: 7-32). Associated with increased length-of-stay were cardiac defect (1.47 [1.37–1.56], p < 0.001), vertebral anomaly (1.1 [1.05–1.14], p < 0.001), TE fistula (1.73 [1.66–1.81], p < 0.001), anorectal malformation (1.12 [1.07–1.16], p < 0.001), and weight <1,750 g (1.65 [1.57–1.73], p < 0.001). Conclusion: This novel assessment tool may help providers counsel families confronting a VACTERL diagnosis. [ABSTRACT FROM AUTHOR]

Tracheal atresia/agenesis (TA) is associated with other congenital anomalies (TACRD and/or VACTERL). In this study, a female newborn with TA who had all the elements associated with TACRD and VACTERL was reported. The patient with TA, tracheo-esophageal fistula (TEF) connecting to the esophagus at the level of the carina, persistent left superior vena cava, duodenal atresia, vertebral and limb defects, bilateral hydronephrosis, and persistent cloaca was operated on postnatal 5th day. Band ligation to the abdominal esophagus, gastrostomy, duodenal atresia repair and diverting colostomy due to persistent cloaca were performed. The lungs were bilaterally expanded in the first postnatal, preoperative and postoperative chest radiographs. Oxygen saturation remained above 90% until the patient died suddenly on the postnatal 8th day. TA is a very rare congenital anomaly that causes postnatal respiratory distress. This case is unique among the literature on TACRD and VACTERL associations for many reasons. Esophageal band ligation in TA cases with TEF is a method that keeps the pressure in the esophagus at an appropriate level and provides air passage to the trachea via fistula. [ABSTRACT FROM AUTHOR]

Isolated bilateral absence of radial artery in association with other congenital anomalies, together named VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) is a very rare phenomenon. We report a patient, known to have VACTERL association, and who presented with ESRD. He was on hemodialysis and had been subjected to multiple failed tries at vascular access due to congenital bilateral absence of radial arteries and other vascular anomalies. This case report highlights hemodialysis options in congenital bilateral absence of radial artery and probable VACTERL association showing superiority of arteriovenous fistula despite its accompanying complications. [ABSTRACT FROM AUTHOR]

The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and anogenital malformations. We identified five patients with de novo or inherited pathogenic variants in CDX2 with clinical phenotypes that partially overlap with previous cases, that is, imperforate anus and renal, urogenital and limb abnormalities. However, additional clinical features were seen including vertebral agenesis and we describe considerable phenotypic variability, even in unrelated patients with the same recurrent p.(Arg237His) variant. We propose CDX2 variants as rare genetic cause for a multiple congenital anomaly syndrome that can include features of caudal regression syndrome and VACTERL. A causative role is further substantiated by the relationship between CDX2 and other proteins encoded by genes that were previously linked to caudal abnormalities in humans, for example, TBXT (sacral agenesis and other vertebral segmentation defects) and CDX1 (anorectal malformations). Our findings confirm the essential role of CDX2 in caudal morphogenesis and formation of cloacal derivatives in humans, which to date has only been well characterized in animals. [ABSTRACT FROM AUTHOR]

Introduction:  Published studies based on Krickenbeck classification of anorectal malformations (ARMs) are still insufficient to assess the global as well as regional relative incidence of different ARM subtypes, gender distribution, and associated anomalies. The primary purpose of this study was to provide an estimate of those in Global Initiative for Children's Surgery (GICS) research group.Materials and Methods:  We collected ARM data prospectively for 1 year from four institutes of different geographic locations. A total of 342 patients were included in this study (195, 126, 11, and 10 from Bangladesh, Iran, Papua New Guinea, and Oxford, United Kingdom, respectively).Results:  Overall male to female ratio was 1:1. The most frequent ARM subtype was perineal fistula (23.7% = 81/342). About 48.5% (166/342) patients had at least one associated anomaly. Cardiac and genitourinary systems were the most commonly affected systems, 31.6% (108/342) and 18.4% (63/342), respectively. These organ-systems were followed by anomalies of vertebral/spinal (9.9% = 34/342), musculoskeletal (4.4% = 15/342), and gastrointestinal/abdominal (3.2% = 11/342) systems. Rectovesical fistula had the highest percentage (96.4% = 27/28) of associated anomalies. About 18.1% (62/342) patients had multiple anomalies. ARMs (both isolated and with associated anomalies) occurred equally in males and females. Comparison between patients from Bangladesh and Iran showed differences in relative incidence in ARM subtypes. In addition, Iranian patient group had higher percentage of associated anomalies compared with Bangladeshi (73 vs. 35.4%).Conclusion:  Our study provides important insights about ARM subtypes, gender distribution and associated anomalies based on Krickenbeck classification especially from Bangladesh and Iran. [ABSTRACT FROM AUTHOR]

Introduction. Esophageal atresia (EA), typically occurring with tracheoesophageal fistula (TEF), is one of the most common digestive malformations; 50% of the esophageal atresia cases associate other malformations, syndromes or association of congenital abnormalities. EA is also met in patients with Edwards syndrome, Down syndrome, Di George syndrome and Pierre Robin syndrome. Delayed diagnosis of EA associated anomalies leads to increased morbidity and mortality, especially in patients with two or more associated abnormalities. Our study aims to highlight EA associated anomalies and to evaluate their impact on mortality. Materials and methods. We conducted a retrospective study of all newborns admitted in the Neonatal Intensive Care Unit of "Grigore Alexandrescu” Emergency Clinical Hospital for Children, with the diagnosis of esophageal atresia/ tracheoesophageal fistula (TEF), between January 2013 and December 2018; we evaluated demographic information, clinical manifestation, the ultrasound and radiological results. Our study aimed to highlight AE associated anomalies and to evaluate their impact on mortality. Results. 56 newborns with esophageal atresia/ tracheoesophageal fistula diagnosis were identified. 31 of them were boys, and 22 patients had gestational age (GA) between 32 and 36 weeks. Five newborns came from twin pregnancies. EA/ TEF associated anomalies were identified in 35 patients; the most frequent of those were cardiac anomalies (identified in 25 patients). The association of 3 anomalies from VACTERL spectrum (vertebral, anorectal, cardiac, EA/ TEF, renal and urinary, and limb lesions) was seen in 11 newborns. The estimated risk of death was lightly increased in females and in patients from urban area; the patients with limb anomalies had an estimated risk of death 5 times higher (p = 0.043). Conclusions. EA is a complex pathology both by the malformations and genetic syndromes that can be associated with it, and by the complications that occur in evolution. Antenatal diagnosis of EA and of the associated anomalies, along with multidisciplinary care, represent important measures in order to avoid underdiagnosis of associated problems. [ABSTRACT FROM AUTHOR]

Birth defects occur in up to 3% of all live births and are the leading cause of infant death. Here we present five individuals from four unrelated families, individuals who share similar phenotypes with disease-causal bi-allelic variants in NADSYN1 , encoding NAD synthetase 1, the final enzyme of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway. Defects range from the isolated absence of both kidneys to multiple malformations of the vertebrae, heart, limbs, and kidney, and no affected individual survived for more than three months postnatally. NAD is an essential coenzyme for numerous cellular processes. Bi-allelic loss-of-function mutations in genes required for the de novo synthesis of NAD were previously identified in individuals with multiple congenital abnormalities affecting the heart, kidney, vertebrae, and limbs. Functional assessments of NADSYN1 missense variants, through a combination of yeast complementation and enzymatic assays, show impaired enzymatic activity and severely reduced NAD levels. Thus, NADSYN1 represents an additional gene required for NAD synthesis during embryogenesis, and NADSYN1 has bi-allelic missense variants that cause NAD deficiency-dependent malformations. Our findings expand the genotypic spectrum of congenital NAD deficiency disorders and further implicate mutation of additional genes involved in de novo NAD synthesis as potential causes of complex birth defects. [ABSTRACT FROM AUTHOR]

Abstract Introduction Patients with anorectal malformations (ARM) often have associated congenital anomalies and should undergo several screening exams in the first year of life. We hypothesized that racial and socioeconomic disparities exist in the screening processes for these patients. Methods After IRB approval, a retrospective review of patients with ARM born between 2005 and 2016 was performed at a quaternary care children's hospital. Demographics including gender, race, insurance, and zip code were collected. Zip code was used as a surrogate for median income. Chart review was performed to identify anomaly type and whether Vertebral defects, Anorectal malformations, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities screening was performed within 1 y of age. Descriptive statistics and chi square analyses were performed. Results One hundred patients (59% male, 68% low malformation) were identified. African American and Caucasian subjects represented 41% and 40% of the population, respectively. Overall, 68 of 100 patients had at least one screening test for each of the Vertebral defects, Anorectal malformations, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities associations. Although some minor differences were noted (more African Americans received skeletal survey than Caucasians, 80.5% versus 60%, P = 0.00335), no pattern of systematic bias in the receipt or timing of screening was evident based on race, insurance, or income. Conclusions There do not appear to be racial or socioeconomic disparities in screening for associated anomalies in patients with ARM. However, overall gaps in screening still exist, and work must be carried out to appropriately screen all patients for associated anomalies. [ABSTRACT FROM AUTHOR]

Key Clinical Message This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication. [ABSTRACT FROM AUTHOR]

The acronym VATER/VACTERL association (OMIM #192350) refers to the rare non-random co-occurrence of the following component features (CFs): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). According to epidemiological studies, the majority of patients with VATER/VACTERL association present with a 'Renal' phenotype comprising a large spectrum of congenital renal anomalies. This finding is supported by evidence linking all of the human disease genes for the VATER/VACTERL association identified to date, namely, FGF8, FOXF1, HOXD13, LPP, TRAP1, and ZIC3, with renal malformations. Here we review these genotype-phenotype correlations and suggest that the elucidation of the genetic causes of the VATER/VACTERL association will ultimately provide insights into the genetic causes of the complete spectrum of congenital renal anomalies per se. [ABSTRACT FROM AUTHOR]

Mitochondrial DNA depletion syndromes are an important cause of mitochondrial cytopathies in both children and adults. We describe a newborn with multiple congenital malformations including a right aberrant subclavian artery and a trachea-oesophageal fistula in whom mitochondrial depletion syndrome was unmasked by perioperative muscle relaxation. After vecuronium infusion, the infant developed an irreversible postoperative paralysis, leading to death 32 days after surgery. The present case highlights (a) the clinical heterogeneity of mitochondrial depletion syndrome; (b) the importance of rigorous antemortem and postmortem investigations when the cause of a severe myopathy is uncertain; (c) the possible coexistence of mitochondrial depletion syndrome and congenital malformations as a result of a likely abnormal antenatal embryofetal development and (d) the importance of a careful anaesthetic management of children with mitochondrial depletion syndrome, which could be prone to complications related to the possible depressive effects on mitochondrial electron transport chain mediated by some anaesthetic agents. [ABSTRACT FROM PUBLISHER]

Background: The VACTERL association (VA) is the non-random co-occurrence of vertebral anomalies, anal atresia, cardiovascular malformations, tracheoesophageal fistula and/or esophageal atresia, renal anomalies, and/or limb anomalies, and is referred to by the first letters of its components. Studies investigating the clinical characteristics of VA patients and probing of the observed current six component types are limited, and none of them is focused on neonates. We investigated the clinical characteristics of our patients diagnosed as having VA in the newborn period. Methods: We retrospectively reviewed the neonates whose final diagnosis was VACTERL association. Presence of at least three components of previously reported six anomalies was accepted as VACTERL association. Sex, birthweight, gestational age, postnatal age, anomalies of the systems that are included in VA, and the other features were recorded. Results: There was a male predominance (14/11) of 28 patients; and there were three patients with ambiguous genitalia. The most common observed VACTERL component was vertebral anomalies ( n= 26), followed by anal atresia ( n= 19), tracheoesophageal fistula/esophageal atresia ( n= 17), renal anomalies ( n= 15), limb anomalies ( n= 15) and cardiac anomalies ( n= 14). The most frequent combination was VCTL ( n= 4). Fifteen (57%) patients had non-VACTERL anomalies and the most frequent of these was ambiguous genitalia ( n= 3). Conclusion: VA patients may have different clinical characteristics in different populations, and clinicians may miss some component features if the patients are evaluated after the neonatal period. [ABSTRACT FROM AUTHOR]

Abstract: VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 –35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R) and limb malformations (L). Although the etiology is unknown in the majority of patients, there is evidence that it is causally heterogeneous. Several studies have shown evidence for inheritance in VACTERL, implying a role for genetic loci. Recently, patients with component features of VACTERL and a lethal developmental pulmonary disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), were found to harbor deletions or mutations affecting FOXF1 and the FOX gene cluster on chromosome 16q24. We investigated this gene through direct sequencing and high-density SNP microarray in 12 patients with VACTERL association but without ACD/MPV. Our mutational analysis of FOXF1 showed normal sequences and no genomic imbalances affecting the FOX gene cluster on chromosome 16q24 in the studied patients. Possible explanations for these results include the etiologic and clinical heterogeneity of VACTERL association, the possibility that mutations affecting this gene may occur only in more severely affected individuals, and insufficient study sample size. [Copyright &y& Elsevier]

Abstract: VACTERL association involves the presence of specific congenital, multi-organ malformations that tend to co-occur. Clinical and research efforts typically center on pediatric patients, and there is a scarcity of information in the literature regarding VACTERL-related issues and outcomes in adulthood. We describe here 11 adults with features of VACTERL association ascertained through our research study on the condition. In our cohort of adult patients, approximately 25% of medically significant malformations that are component features of VACTERL association, including 40% of vertebral, 50% of cardiac, and 50% of renal anomalies, were not identified during childhood. Additionally, medical sequelae of many of the primary malformations identified in infancy or early childhood persist or are first reported in adulthood. These sequelae can involve challenging medical and surgical management in adulthood. As most adults with VACTERL association are not specifically followed for VACTERL-related issues, a more uniform diagnostic work-up and a low threshold for investigation of medical sequelae of the primary disorder may enhance the quality of clinical management in these patients. [Copyright &y& Elsevier]

Tracheal agenesis (TA) is a rare congenital anomaly of the respiratory tract. Many patients have associated anomalies, suggesting a syndromal phenotype. In a cohort of 12 patients, we aimed to detect copy number variations. In addition to routine cytogenetic analysis, we applied oligonucleotide array comparative genomic hybridization. Our patient cohort showed various copy number variations, of which many were parentally inherited variants. One patient had, in addition to an inherited 16p12.1 deletion, a 3.6 Mb deletion on chromosomal locus 5q11.2. This patient had a syndromic phenotype, including vertebral, anal, cardiovascular and tracheo-oesophageal associated anomalies, and other foregut-related anomalies, such as cartilage rings in the oesophagus and an aberrant right bronchus. No common deletions or duplications are found in our cohort, suggesting that TA is a genetically heterogeneous disorder. [ABSTRACT FROM AUTHOR]

Vertebral malformations contribute substantially to the pathophysiology of kyphosis and scoliosis, common health problems associated with back and neck pain, disability, cosmetic disfigurement, and functional distress. This review explores (1) recent advances in the understanding of the molecular embryology underlying vertebral development and relevance to elucidation of etiologies of several known human vertebral malformation syndromes; (2) outcomes of molecular studies elucidating genetic contributions to congenital and sporadic vertebral malformation; and (3) complex interrelationships between genetic and environmental factors that contribute to the pathogenesis of isolated syndromic and nonsyndromic congenital vertebral malformation. Discussion includes exploration of the importance of establishing improved classification systems for vertebral malformation, future directions in molecular and genetic research approaches to vertebral malformation, and translational value of research efforts to clinical management and genetic counseling of affected individuals and their families. [ABSTRACT FROM AUTHOR]

The teratogenic effect of Adriamycin (doxorubicin) in the rat model, and more recently in the mouse, has provided paediatric surgeons with a reliable, easily reproducible method of studying the embryology and molecular biology for a range of complex congenital anomalies. Concomitantly these animal models have stimulated interest among embryologists for the effect on the notochord, shedding more light on the important organizational role of this structure in the developing embryo. Finally, as more is learnt of the pathogenesis of the various malformations induced by Adriamycin, future therapeutic interventions involving gene therapy, drugs or surgery may arise. This article reviews the establishment of the Adriamycin rat and mouse models, examines their impact on various congenital malformations, and suggests targets for further research. [ABSTRACT FROM AUTHOR]

Abstract: Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which were collected between 1979 and 2003 in 334, 262 consecutive births. Of the 174 patients with ARM during the study period, 49.4% had associated malformations. Patients with associated malformations were further classified into groups with nonsyndromic multiple congenital anomalies; chromosomal abnormalities; nonchromosomal syndromes including Townes–Brocks, Walker–Warburg, Ivemark, Fetal alcohol, Klippel–Feil, Pallister–Hall, Facio-auriculo-vertebral spectrum, deletion 22q11.2; sequences, including OEIS, Pierre Robin and sirenomelia; and associations including VATER and MURCS. Malformations of the urogenital system (81.1%) and of the skeletal system (45.5%) were the most common other congenital anomalies occurring with ARM in multiply malformed patients without recognized entities, followed by malformations of the cardiovascular system, the digestive system, and the central nervous system. Weight, length, and head circumference of children with ARM and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal detection by fetal ultrasonographic examination was rarely made in isolated ARM. However, even in multiple associated malformations, prenatal detection by fetal ultrasonographic examination had a low sensitivity, 36%. In conclusion the overall prevalence of malformations, which was close to 1 in two infants, emphasizes the need for a thorough investigation of patients with ARM. A routine screening for other malformations may be considered in patients with ARM, and genetic counseling seems warranted in most of these complicated cases. [Copyright &y& Elsevier]

Oesophageal atresia (OA) and/or tracheo-oesophageal fistula (TOF) are frequent malformations observed in approximately one in 3500 births. OA/TOF can be divided clinically into isolated OA (IOA) and syndromic OA (SOA) when associated with other features, the most frequent being cardiac, limb and vertebral malformations or anal atresia. SOA is observed in 50% of patients and can be subdivided into several causative groups comprising environmental agents, chromosomal disorders, malformative associations (CHARGE syndrome and VATER/VACTERL association), and other multiple congenital anomaly disorders. The observation of chromosomal disorders with SOA, as well as mouse models of OA provide support for the involvement of genetic factors in OA. Yet, epidemiological data (twin and family studies) do not support the major role of genetic factors in the majority of cases of IOA but rather a multifactorial model. However, several genes involved in SOA have been recently identified, namely N-MYC, SOX2, and CHD7 involved in Feingold (MIM 164280), anophthalmia-oesophageal-genital (MIM 600992) and CHARGE syndromes respectively (MIM 214800), suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group. [ABSTRACT FROM AUTHOR]

The VACTERL complex refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The incidence of each of these components has not been precisely quantified in the recent literature and the full array of anomalies within each systemic class of the VACTERL complex has not been well described. Therefore, we reviewed our most recent 20-year experience of patients born with esophageal atresia to comprehensively delineate and accurately describe the type and incidence of associated lesions. A retrospective review was then conducted on all patients diagnosed with esophageal atresia between 1985 and 2005. Patient demographics recorded included gestational age, weight and gender. The specific types of lesions were carefully cataloged. The outcome measure recorded was survival. One hundred and twelve patients were diagnosed with esophageal atresia were identified during the study period. The gestational age range was 28-41 weeks with an average of 36.5 weeks. Average birth weight was 2,557 g (range 1,107-3,890). A male predominance was seen with 62 males and 50 females. The overall survival was 92.9%. The categorical breakdown of anomalies were vertebral (24.1%), atresia (14.3%), cardiac (32.1%), tracheoesophageal fistula (95.5%), urinary (17.0%), skeletal (16.1%) and other (10.8%). VACTERL anomalies are common in patients with esophageal atresia, however, they appear to have little impact on overall survival. [ABSTRACT FROM AUTHOR]

Esophageal atresia with tracheoesophageal fistula (EA-TEF) is a congenital malformation typically identified during the neonate period. TEFs are classified according to their anatomic configuration. We present a case that demonstrates a unique anomaly that involves a distal TEF with proximal esophageal atresia duplication. Our case reveals the importance of preoperative planning and intraoperative exploration during this surgical procedure. [ABSTRACT FROM AUTHOR]

We present a rare case of simultaneous esophageal and tracheal atresia with trachea-esophageal fistula in a premature infant with VACTERL association. Although multiple surgical interventions were attempted in the management of this patient, the patient expired, reflecting the low survival rates associated with both esophageal atresia and tracheal atresia. This case highlights the difficulty and urgency in diagnosing this rare constellation of congenital anomalies. [ABSTRACT FROM AUTHOR]

Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations. [ABSTRACT FROM AUTHOR]

In this single‐center retrospective study, we analyzed kidney transplant outcomes in nine pediatric patients with VACTERL [vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities] association—making this the largest study of its kind. Of 743 pediatric kidney transplant recipients at our center (1980‐2017), nine had documented diagnoses of VACTERL association. All nine had congenital anorectal malformations and renal anomalies, five had vertebral defects, and one had a bifid thumb and tracheoesophageal fistula. Renal anomalies included dysplasia (n = 6), aplasia (n = 3), and horseshoe kidney (n = 2). Congenital lower urinary tract anomalies included neurogenic bladder (n = 6), obstructive uropathy (n = 4), anovesicular fistula (n = 1), rectourethral fistula (n = 1), and posterior urethral valves (n = 1). Age at transplant ranged from 1.2 to 15 years (mean, 7.3; standard deviation [SD], 5.5); 6 (67%) were male, and 3 (33%) were female; 6 (67%) had a living related donor, and 3 (33%) had a deceased donor. The overall graft survival rate was 78% (range, 1.5 to 25.2 years; mean, 10.5; SD, 8.9). One month post‐transplant, one recipient died with a functioning graft. At 3.7 years post‐transplant, one graft failed because of recurrent pyelonephritis. Post‐transplant urologic complications included pyelonephritis (n = 6), vesicoureteral reflux (n = 5), and graft hydronephrosis (n = 4). We conclude that pediatric patients with VACTERL association can be safely transplanted—careful patient selection with vigilance and intervention for pre‐ and post‐transplant urologic complications is essential. [ABSTRACT FROM AUTHOR]

The article presents a case study of a Japanese male infant diagnosed with Fanconi's anemia (FA). Esophageal atresia was noted upon birth and multiple congenital anomalies were observed upon admission. Four of the criteria associated with vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb anomalies (VACTERL) were present. Twenty-two lesions found in 100 cells in the blood culture led to the FA diagnosis.