VACTERL

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...

The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth...

Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this investigation was to assess the frequency and the types of associated anomalies among cases with an/microphthalmia in a geographically well defined population of northeastern France of 387,067 consecutive pregnancies from 1979 to 2007. Of the 98 infants with an/microphthalmia born during this period (prevalence at birth of 2...

Gray platelet syndrome is a rare hereditary autosomal recessive condition distinguished by a mild to moderate propensity toward bleeding, moderate reduction in platelet count, and a significant decrease or complete absence of platelet alpha granules. VACTERL association is a condition of specific birth defects affecting multiple organ systems, with an unknown etiology. The acronym stands for vertebral anomalies (V), anal anomalies (A), cardiac anomalies (C), tracheoesophageal fistula (TE), renal anomalies or radial bone anomalies (R), and limb defects (L)...

A 2-year-old male with VACTERL association and asthma presented to the emergency room due to asthma exacerbation. Chest radiography revealed lingular pneumonia and thickening of the left paraspinal line of the gastroesophageal junction. Chest computed tomography confirmed a heterogeneous fluid- and gas-filled structure at the left posterior lateral posterolateral aspect of the esophagus, which was suspected to be an esophageal diverticulum on an upper gastrointestinal series. The esophageal diverticulum was excised via left thoracoscopy, and pathological examination revealed pancreatic tissue...

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors...

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...

We describe the case of a 10-month-old boy with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association and athymia who developed Omenn syndrome.

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...

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VACTERL association is typically defined as the presence of three components among these birth defects: vertebral anomalies, anal atresia, cardiac anomalies, esophageal atresia/tracheoesophageal fistula (EA/TEF), renal anomalies, and limb defects. There is increasing recognition that VACTERL and other recurrent constellations of embryonic development often overlap clinically and might share pathogenesis. We conducted a comprehensive chart review of a large patient population with VACTERL association from two tertiary care centers in California...

Background : VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically and phenotypically, and their condition has been called VACTERL-H syndrome. Most cases of VACTERL-H have been reported postnatally, as VACTER-H syndrome is difficult to diagnose prenatally. Case Presentation: Here, we report a case of VACTERL-H syndrome in a dichorionic and diamniotic twin diagnosed prenatally by ultrasonography and confirmed postnatally by three-dimensional computed tomography (3D CT)...

Anorectal malformation is a disease with different subtypes and anatomical and functional multisystemic involvement that requires a unique approach in each age group. Anomalies associated with vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association require detailed investigation and management. Beginning from the neonatal period, treatment is carried out with different surgical procedures. The clinical course of these patients may be associated with medical problems, accompanying congenital anomalies, perioperative management, or late sequelae...

BACKGROUND/PURPOSE: This study analyzed factors that affect mortality in patients surgically treated for EA, then explored the long-term problems encountered by these patients. MATERIALS AND METHODS: Among 252 patients with EA who were either diagnosed, treated, and subsequently followed at the Department of Pediatric Surgery, Dicle University Medical Faculty Hospital, or were treated surgically elsewhere but followed at our center, between January 2010 and January 2020,214 patients were included in the study...

Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are associated with significant health problems including congenital scoliosis (CS) and recurrent organ system malformation syndromes such as VACTERL. The genetic cause for the vast majority of VMs are unknown. In a CS/VM patient cohort, three COL11A2 variants (R130W, R1407L, R1413H) were identified in two patients with cervical VM. A third patient with a T9 hemivertebra and the R130W variant was identified from a separate study. These substitutions are predicted to be damaging to protein function, and R130 and R1407 residues are conserved in zebrafish Col11a2...

INTRODUCTION: Coexistent congenital duodenal obstruction and esophageal atresia (EA) is known to have significant morbidity and mortality. Management strategies are not well-defined for this association. The data from Turkish EA registry is evaluated. MATERIALS AND METHODS: A database search was done for the years 2015-2022. RESULTS: Among 857 EA patients, 31 (3.6%) had congenital duodenal obstruction. The mean birth weight was 2104 (±457) g with 6 babies <1500 g...

BACKGROUND: Studies on neurodevelopmental outcomes in individuals with congenital anomalies who undergo neonatal surgery are scarce and have reported contradictory findings based on small study groups. The congenital condition VACTERL association includes at least three malformations: vertebral anomalies, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal anomalies and limb deformities. Most of these patients undergo surgery during their first days of life...

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 (KID) from 2003-2016, neonates (<29 days old) with VACTERL were identified using ICD-9-CM and ICD-10-CM codes...

RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic RAC1 variants result in developmental delay and multiple anomalies. Here, exome sequencing identified a rare de novo RAC1 variant [NM_018890.4:c.118T > C p.(Tyr40His)] in a male patient. Fetal ultrasonography indicated the patient to have multiple anomalies, including persistent left superior vena cava, total anomalous pulmonary venous return, esophageal atresia, scoliosis, and right-hand polydactyly...

The combination of duodenal atresia (DA) and esophageal atresia (EA) is very rare. With improvements in prenatal sonography and the use of fetal magnetic resonance imaging (MRI), these malformations can be diagnosed in a more accurate and timely manner; polyhydramnios remains the most common sign despite having a low specificity. The high rate of associated anomalies (in 85% of cases) can also impact neonatal management and increase the morbidity rate; thus, it is of paramount importance to look for every possible associated malformation, such as VACTERL and chromosomic anomalies...