Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association

2018 ◽  
Vol 23 (2) ◽  
pp. e13341
Author(s):  
Jessica Diaz ◽  
Blanche Chavers ◽  
Srinath Chinnakotla ◽  
Priya Verghese
Keyword(s):  
Tracheoesophageal Fistula ◽  
Pediatric Patients ◽  
Anal Atresia ◽  
Kidney Transplants ◽  
Renal Anomalies ◽  
Cardiac Defects ◽  
Vertebral Defects

VATER Association

2003 ◽  
Vol 22 (3) ◽  
pp. 71-75 ◽  
Author(s):  
Janie Spoon
Keyword(s):  
Ventricular Septal Defect ◽  
Tracheoesophageal Fistula ◽  
Umbilical Artery ◽  
Septal Defect ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Single Umbilical Artery ◽  
Vater Association ◽  
Vertebral Defects ◽  
Cardiovascular Anomalies

VATER ASSOCIATION WAS FIRST described in 1973 as a nonrandom group of related defects, as follows: V = vertebral defects, A = anal atresia, TE = tracheoesophageal fistula, R = radial limb dysplasia.1 Since that time, various expansions of the acronym have been suggested in an effort to further define the scope of the VATER association. Temtamy and Miller expanded the V in VATER to include vascular anomalies, specifically, ventricular septal defect and single umbilical artery.2 An expansion of the acronym to VACTERL has been suggested, with the C denoting cardiovascular anomalies and the L denoting limb anomalies.3 The designation of VATER or VACTERL association can be made for infants with at least three of the defects designated in the acronym.4

scholarly journals Vestibular Derangement and Motion Intolerance in VATER Association

2017 ◽  
Vol 2017 ◽  
pp. 1-2
Author(s):  
Orit Samuel ◽  
Avi Shupak ◽  
Ayelet Eran ◽  
Dror Tal
Keyword(s):  
Congenital Malformations ◽  
Tracheoesophageal Fistula ◽  
Laboratory Diagnosis ◽  
Anal Atresia ◽  
Lateral Semicircular Canal ◽  
Vater Association ◽  
Bone Anomalies ◽  
Vertebral Defects ◽  
Field Defect ◽  
Radial Bone

VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported.

scholarly journals Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

2018 ◽  
Vol 6 (2) ◽  
pp. 200-212 ◽  
Author(s):  
Natalie S. Hauser ◽  
Benjamin D. Solomon ◽  
Thierry Vilboux ◽  
Alina Khromykh ◽  
Rajiv Baveja ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Community Hospital ◽  
Genomic Sequencing ◽  
Cardiac Defects ◽  
Congenital Cardiac Defects ◽  
Large Community

scholarly journals Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

2019 ◽  
Vol 56 (10) ◽  
pp. 654-661 ◽  
Author(s):  
Kyra E Stuurman ◽  
Marieke Joosten ◽  
Ineke van der Burgt ◽  
Mariet Elting ◽  
Helger G Yntema ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Clinical Information ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Hydrops Fetalis ◽  
Common Finding ◽  
Variable Degree ◽  
Renal Anomalies ◽  
Cardiac Defects ◽  
Ultrasound Findings

BackgroundThis study evaluates 6 years of prenatal rasopathy testing in the Netherlands, updates on previous data and gives recommendations for prenatal rasopathy testing.Methods424 fetal samples, sent in for prenatal rasopathy testing in 2011–2016, were collected. Cohort 1 included 231 samples that were sequenced for 1–5 rasopathy genes. Cohort 2 included 193 samples that were analysed with a 14-gene next generation sequencing (NGS) panel. For all mutation-positive samples in both cohorts, the referring physician provided detailed ultrasound findings and postnatal follow-up. For 168 mutation-negative samples in cohort 2, solely clinical information on the requisition form was collected.ResultsIn total, 40 (likely) pathogenic variants were detected (9.4%). All fetuses showed a variable degree of involvement of prenatal findings: increased nuchal translucency (NT)/cystic hygroma, distended jugular lymph sacs (JLS), hydrops fetalis, polyhydramnios, pleural effusion, ascites, cardiac defects and renal anomalies. An increased NT was the most common finding. Eight fetuses showed solely an increased NT/cystic hygroma, which were all larger than 5.5 mm. Ascites and renal anomalies appeared to be poor predictors of pathogenic outcome.ConclusionFetuses with a rasopathy show in general multiple ultrasound findings. The larger the NT and the longer it persists, the more likely it is to find a pathogenic variant. Rasopathy testing is recommended when the fetus shows an isolated increased NT ≥5.0 mm or when NT of ≥3.5 mm and at least one of the following ultrasound anomalies is present: distended JLS, hydrops fetalis, polyhydramnios, pleural effusion, ascites, cardiac defects and renal anomalies.

VACTERL Association With High Prenatal Lead Exposure: Similarities to Animal Models of Lead Teratogenicity

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 390-392
Author(s):  
FRED LEVINE ◽  
MAXIMILIAN MUENKE
Keyword(s):  
Septal Defect ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Cardiac Defect ◽  
Distinct Entity ◽  
Renal Anomalies ◽  
Live Births ◽  
Vertebral Anomalies ◽  
Definition Of ◽  
Prenatal Lead Exposure

The VACTERL association is one of the more common patterns of multiple malformations in children, with an incidence of approximately 1.6 cases per 10 000 live births.1 The pattern of defects consists of vertebral anomalies (found in 70% of patients), anal atresia with or without fistula (80%), cardiac defect (50%) with ventricular septal defect being most common, tracheoesophageal fistula (70%), renal anomalies (53%), and limb anomalies (65% with radial anomalies and 23% with lower extremity defects).2 The definition of the VACTERL association as a distinct entity is based on the finding that its constituent anomalies are associated in a nonrandom manner.1,3,4

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12

2014 ◽  
Vol 57 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Robert Smigiel ◽  
Carlo Marcelis ◽  
Dariusz Patkowski ◽  
Nicole de Leeuw ◽  
Damian Bednarczyk ◽  
...  
Keyword(s):  
Tracheoesophageal Fistula ◽  
De Novo ◽  
Oesophageal Atresia ◽  
Anal Atresia

scholarly journals Neonatal Respiratory Distress and Airway Emergency: Report of Two Cases

Children ◽  
2021 ◽  
Vol 8 (4) ◽  
pp. 255
Author(s):  
Lorenzo Bresciani ◽  
Paola Grazioli ◽  
Roberta Bosio ◽  
Gaetano Chirico ◽  
Cesare Zambelloni ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Neonatal Intensive Care ◽  
Renal Dysplasia ◽  
Esophageal Intubation ◽  
Mask Ventilation ◽  
Anal Atresia ◽  
Severe Respiratory Distress ◽  
First Case ◽  
Emergency Tracheostomy ◽  
Vertebral Defects

We discuss two cases of congenital airway malformations seen in our neonatal intensive care unit (NICU). The aim is to report extremely rare events characterized by immediate respiratory distress after delivery and the impossibility to ventilate and intubate the airway. The first case is a male twin born at 34 weeks by emergency caesarean section. Immediately after delivery, the newborn was cyanotic and showed severe respiratory distress. Bag-valve-mask ventilation did not relieve the respiratory distress but allowed for temporary oxygenation during subsequent unsuccessful oral-tracheal intubation (OTI) attempts. Flexible laryngoscopy revealed complete subglottic obstruction. Postmortem analysis revealed a poly-malformative syndrome, unilateral multicystic renal dysplasia with a complete subglottic diaphragm, and a tracheo-esophageal fistula (TEF). The second case is a male patient that was vaginally born at 35 weeks. Antenatally, an ultrasound (US) arose suspicion for a VACTERL association (vertebral defects, anal atresia, TEF with esophageal atresia and radial or renal dysplasia, plus cardiovascular and limb defects) and a TEF, and thus, fetal magnetic resonance (MRI) was scheduled. Spontaneous labor started shortly thereafter, before imaging could be performed. Respiratory distress, cyanosis, and absence of an audible cry was observed immediately at delivery. Attempts at OTI were unsuccessful, whereas bag-valve-mask ventilation and esophageal intubation allowed for sufficient oxygenation. An emergency tracheostomy was attempted, although no trachea could be found on cervical exploration. Postmortem analysis revealed tracheal agenesis (TA), renal dysplasia, anal atresia, and a single umbilical artery. Clinicians need to be aware of congenital airway malformations and subsequent difficulties upon endotracheal intubation and must plan for multidisciplinary management of the airway at delivery, including emergency esophageal intubation and tracheostomy.

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