Search results for "Anal Atresia"

showing 6 items of 6 documents

Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2017

Abstract Introduction: Choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae. In 67% of cases choanal atresia is unilateral, affecting mainly (71%) the right nasal cavity. In contrast to the unilateral form, bilateral choanal atresia is a life-threatening condition often associated with respiratory distress with feeding and intermittent cyanosis exacerbated by crying. Surgical treatment remains the only therapeutic option. Objective: To report our experience in the use of a transnasal endoscopic approach with stentless single side-hinged flap technique for the surgical management of choanal atresia. Methods:…

Endoscopic nasal surgeryCirurgia nasal endoscópicaChoanal atresiaotorhinolaryngologic diseasesRe-stenosisAtresia de coanaRestenose
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Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

2013

Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).Design A population-based case-control study.Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008.Population The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13371 controls with recognised syndromes or chromosomal abnormalities.Methods Multiple logistic regression analyses were used to calculate adjusted odds ratios …

ANOMALIESaetiologyMaternalLogistic regressionAnus ImperforateEpilepsyPre-EclampsiaMEDICATION USEPregnancyRisk FactorsOdds RatioAetiologymedia_commoneducation.field_of_studyObstetricsMATERNAL EXPOSUREObstetrics and GynecologyAnal atresiaCONGENITAL-MALFORMATIONSAnorectal MalformationsEuropeParityHuman Reproduction Renal disorder [NCEBP 12]Population studyFemaleAnal Atresiamedicine.medical_specialtyFeverReproductive Techniques Assistedmedia_common.quotation_subjectPopulationFertilityGenomic disorders and inherited multi-system disorders [IGMD 3]VACTERLmedicineanorectal malformations; anal atresia; birth defects; aetiology; maternal; pregnancy; VACTERLHumansAbnormalities MultipleBirth DefectseducationPregnancyEpilepsybusiness.industryRENACCase-control studyInfant NewbornAbortion InducedOdds ratioBIRTH-DEFECTS PREVENTIONBECKWITH-WIEDEMANN-SYNDROMEHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Estados de Saúde e de Doençamedicine.diseasePregnancy Complicationsmaternalbirth defectsEvaluation of complex medical interventions [NCEBP 2]Case-Control StudiesRISK-FACTORSPregnancy TwinMULTIPLE BIRTHSbusinessIN-VITRO FERTILIZATION
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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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Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective anal…

2017

Introdução: A atresia de coanas é uma malformação congênita rara da cavidade nasal caracterizada pela obliteração completa da coana posterior. Nos 67% dos casos a atresia coanal é unilateral, acometendo principalmente (71%) a cavidade nasal direita. Diferentemente da forma unilateral, a atresia coanal bilateral é uma condição com risco de vida, frequentemente associada a angústia respiratória com alimentação e cianose intermitente exacerbada pelo choro. O tratamento cirúrgico permanece como a única opção terapêutica. Objetivo: Relatar a nossa experiência no uso de uma abordagem endoscópica transnasal com a técnica de retalho articulado de um lado só sem colocação de stent para o tratamento …

AdultMaleNasal cavitymedicine.medical_specialtyAdolescentmedicine.medical_treatmentAtresia de coanaChoanal atresiaRestenoseChoanal atresia; Endoscopic nasal surgery; Re-stenosis; Otorhinolaryngology2734 Pathology and Forensic MedicineTransanal Endoscopic SurgeryYoung Adult03 medical and health sciences0302 clinical medicineRestenosismedicineotorhinolaryngologic diseasesHumansChild030223 otorhinolaryngologyRetrospective StudiesTransanal Endoscopic SurgeryRespiratory distressbusiness.industryOtorhinolaryngology2734 Pathology and Forensic MedicineChoanal atresiaRe-stenosisStentRetrospective cohort studyMiddle Agedmedicine.diseaselcsh:Otorhinolaryngologylcsh:RF1-547SurgeryBilateral choanal atresiaTreatment Outcomemedicine.anatomical_structureRe-stenosiEndoscopic nasal surgeryOtorhinolaryngologyCirurgia nasal endoscópicaFemaleTomography X-Ray Computedbusiness030217 neurology & neurosurgery
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Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

1998

A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a pe…

medicine.medical_specialtyIntestinal AtresiaPyloric stenosisCongenital AbnormalitiesMedicineHumansAbnormalities MultipleHirschsprung DiseaseChildHirschsprung's diseaseIntestinal neuronal dysplasiabusiness.industryIntestinal atresiaInfant NewbornIleal AtresiaInfantGeneral MedicineSubmucous Plexusbiochemical phenomena metabolism and nutritionmedicine.diseasedigestive system diseasesSurgeryIntestinesAnal atresiaAtresiaPediatrics Perinatology and Child HealthNecrotizing enterocolitisSurgeryDown SyndromeMorbiditybusinessPediatric surgery international
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Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients

2017

IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…

Heart Defects CongenitalMale0301 basic medicineChoanal atresiaNoseBiologyfrontonasal dysplasiaChoanal AtresiaFacial BonesEncephaloceleCohort StudiesCraniofacial Abnormalities03 medical and health sciences0302 clinical medicineExome SequencingGeneticsmedicineHumansAbnormalities MultipleFrontonasal dysplasia[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsGenetics (clinical)Exome sequencingEncephalocelenasofrontal encephaloceleCorpus Callosum AgenesisInfantAnatomymedicine.diseasePhenotype030104 developmental biologyPalpebral fissuremedicine.anatomical_structure[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsnasal malformationFaceEtiologyUpper limbFemaleAgenesis of Corpus Callosum030217 neurology & neurosurgery
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