Search results for "VACTERL association"

showing 9 items of 9 documents

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

2017

Background The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. Methods To detect further causative CNVs we perfor…

0301 basic medicineEmbryologymedicine.medical_specialtyPathologyHealth Toxicology and MutagenesisTracheoesophageal fistulaDisease030105 genetics & heredityToxicologydigestive systemGastroenterology03 medical and health sciencesInternal medicinemedicineIn patientCopy-number variationbusiness.industryKaryotypemedicine.diseaseVACTERL associationdigestive system diseases030104 developmental biologyAtresiaPediatrics Perinatology and Child HealthChromosomal regionbusinessDevelopmental BiologyBirth Defects Research
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Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no eviden…

2013

BACKGROUND Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS None…

AdultHeart Defects CongenitalMaleRiskEmbryologymedicine.medical_specialtyAdolescentFistulaInheritance PatternsLimb Deformities CongenitalAnal CanalKidneyGastroenterologyRecurrence riskAnus ImperforateEsophagusInternal medicinemedicineHumansEsophageal FistulaFirst-degree relativesChildEsophageal Atresiabusiness.industrySiblingsVATER/VACTERL ASSOCIATIONGeneral Medicinemedicine.diseaseVACTERL associationSpinePedigreeTracheaRadiusAtresiaCase-Control Studiesembryonic structuresPediatrics Perinatology and Child HealthCohortFemalebusinessDevelopmental BiologyTracheoesophageal FistulaBirth defects research. Part A, Clinical and molecular teratology
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Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

2020

Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…

AdultMalePediatricsmedicine.medical_specialtySkeletal anomaliesRadiographyPelvic bones Musculoskeletal system Congenital abnormalities VACTERL association Radiography International classification of diseasesInfant Newborn DiseasesPelvismedicineHumansbusiness.industryIncidenceMedical recordInfant NewbornObstetrics and GynecologyOdds ratiomedicine.diseaseVACTERL associationHypoplasiaMusculoskeletal AbnormalitiesRadiographyAgenesisPediatrics Perinatology and Child HealthFemaleHigh incidencebusinessDigestive System Abnormalities
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HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies

2014

Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients …

Delayed pubertyEmbryologymedicine.medical_specialtyKallmann syndromeTracheoesophageal fistulaGeneral MedicineBiologyUnilateral cryptorchidismmedicine.diseaseVACTERL associationGastroenterologyHypergonadotropic hypogonadismEndocrinologyInternal medicineAtresiaPediatrics Perinatology and Child HealthGene duplicationmedicinemedicine.symptomDevelopmental BiologyBirth Defects Research Part A: Clinical and Molecular Teratology
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Corsello G, Maresi E, Corrao AM, Dimita U, Lo Cascio M, Cammarata M, Giuffrè L (1992): VATER/VACTERL association: Clinical variability and expanding …

1993

Geneticsbusiness.industryVATER/VACTERL ASSOCIATIONMedicineAnatomyLaryngeal StenosisbusinessPhenotypeGenetics (clinical)American Journal of Medical Genetics
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Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

2013

Background: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL a…

Heart Defects CongenitalMalemedicine.medical_specialtyPediatricsVATERLimb Deformities CongenitalAnal CanalTracheoesophageal fistulaKidneyNervous System MalformationsUmbilical ArteriesAssociationAnus ImperforateEsophagusSettore MED/38 - Pediatria Generale E SpecialisticaIntensive Care Units NeonatalVACTERLmedicinePrevalenceHumansEsophagusEsophageal AtresiaSicilyRetrospective StudiesCongenital malformationsSingle umbilical arterybusiness.industryTracheo-esophageal fistulaResearchSettore MED/20 - Chirurgia Pediatrica E InfantileRadial dysplasiaInfant NewbornAnomaliesSyndromeAnal canalToesmedicine.diseaseVACTERL associationSpineSurgeryTracheaEsophageal atresia; Tracheo-esophageal fistula; VATER; VACTERL; Association; Congenital malformations; Anomaliesmedicine.anatomical_structureAnal atresiaPhenotypeAtresiaCongenital malformationFemalebusiness
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VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.

1992

Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.

Heart Septal Defects VentricularMalemedicine.medical_specialtyRadial aplasiaTerminology as TopicmedicineHumansEsophageal AtresiaLungGenetics (clinical)Polydactylybusiness.industryVATER/VACTERL ASSOCIATIONInfant NewbornLaryngostenosisAnatomySyndromemedicine.diseaseAnusPhenotypeVACTERL associationStenosismedicine.anatomical_structurePhenotypeRadiologyLaryngeal StenosisbusinessTracheoesophageal FistulaAmerican journal of medical genetics
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Etiological heterogeneity and clinical variability in newborns with esophageal atresia

2018

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 f…

MalePediatricsDatabases FactualAnal CanalTracheoesophageal fistulaKidneyCohort StudiesVACTERL association0302 clinical medicineMedicine030212 general & internal medicineHospital Mortalitylcsh:RJ1-570General MedicinePrognosisVACTERL associationTracheaRetrospective studyFemaleNeonatal intensive careRetrospective study Esophageal atresia VACTERL association Neonatal intensive care NewbornHeart Defects Congenitalmedicine.medical_specialtyLimb Deformities CongenitalContext (language use)Gestational AgeRisk Assessment03 medical and health sciencesEsophagus030225 pediatricsIntensive careIntensive Care Units NeonatalHumansAbnormalities MultipleGenetic Predisposition to DiseaseRetrospective Studiesbusiness.industryResearchInfant NewbornRetrospective cohort studylcsh:PediatricsLength of Staymedicine.diseaseNewbornSurvival AnalysisSpineParenteral nutritionAtresiaEsophageal atresiaEtiologybusiness
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Clinical and genetic approach in the characterization of newborns with anorectal malformation

2022

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: with…

MalePediatricsmedicine.medical_specialtyAnal CanalKidneymedicinecongenital abnormalitieHumansCopy-number variationimperforate anuHypertelorismbusiness.industryInfant Newborncopy number variationObstetrics and GynecologyGenetic dataRetrospective cohort studyToesmedicine.diseaseVACTERL associationhumanitiesAnorectal Malformationsbody regionsRetrospective studyUrogenital AbnormalitiesPediatrics Perinatology and Child HealthFemaleSyndactylybusinessImperforate anusVACTERL association.
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