scholarly journals VACTERL association in the newborn

2014 ◽  
Vol 2 (02) ◽  
pp. 96-99
Author(s):  
Girish Gopal ◽  
Gangadhar B. Belavadi
Keyword(s):  
Chromosomal Abnormalities ◽  
Congenital Defects ◽  
Vacterl Association ◽  
Esophageal Fistula ◽  
Anal Atresia ◽  
Cardiac Defects

VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to make a diagnosis of this condition. Most of these cases occur sporadically, although few cases with chromosomal abnormalities have been reported. Herein, we report a newborn who had most of the defects seen in VACTERL association.

scholarly journals Eyelid Coloboma in a Newborn with VACTERL Association

2018 ◽  
Vol 37 (3) ◽  
pp. 280-283
Author(s):  
Mukunda Timilsina ◽  
Eva Gauchan ◽  
Deepak Prasad Koirala
Keyword(s):  
Case Report ◽  
Teaching Hospital ◽  
Vacterl Association ◽  
Esophageal Fistula ◽  
Anal Atresia ◽  
Cardiac Defects

VACTERL is used to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). This is a case report of a neonate delivered to Manipal Teaching Hospital, Pokhara with features suggestive of VACTERL association.

scholarly journals Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association

2020 ◽  
Vol 11 (5-6) ◽  
pp. 271-283
Author(s):  
Olga M. Moreno ◽  
Ana I. Sánchez ◽  
Angélica Herreño ◽  
Gustavo Giraldo ◽  
Fernando Suárez ◽  
...  
Keyword(s):  
Copy Number ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Structural Defects ◽  
Comparative Genomic ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Limb Defects ◽  
Renal Malformations

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

2008 Alexander S. Nadas Lecture—Repaired, Not Cured

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Amnon Rosenthal
Keyword(s):  
Primary Care ◽  
School Health ◽  
Care Physician ◽  
Care Plan ◽  
Congenital Defects ◽  
Optimal Care ◽  
Term Care ◽  
Cardiac Defects ◽  
Number Of Patients ◽  
Medical Advances

A large number of patients with congenital cardiac disease have a repaired but not cured malformation. Although some mild cardiac defects may heal spontaneously, others persist or progress with advancing age. Among those with a major or complex defect repaired by interventional and/or surgical procedures, few are cured. Whereas major cardiac defects often occur as an isolated anomaly, many patients have serious extracardiac congenital defects, systemic syndromes, genetic abnormalities, or other handicaps. In caring for the patient, the pediatric cardiologist, in addition to directing cardiac therapy, is often called upon to coordinate the diverse care, plan, and guide for the patient’s future. It is a chronic disorder often recognized in the fetus, proceeding through infancy, childhood, and into adulthood, thus requiring long-term care. The medical and surgical therapy is usually provided by subspecialist colleagues within the field. However, delivery of appropriate, comprehensive, and optimal care requires a “quarterback” cardiologist concerned with diverse, frequently inevitable issues, such as prematurity, nutrition, growth, or genetic screening. Important concomitant problems may be related to associated extracardiac anomalies, exercise capacity, school, health or life insurance, employment, pregnancy, and family life. A primary care physician might be uncomfortable advising on many of these issues and the responsibility falls to the cardiologist. Anticipated medical advances may further impact the care and require yet greater coordination of services and close empathetic attention. These changes may include further cardiologist subspecialization, primary care provided by nurse clinicians, fetal cardiac intervention, increase in regionalization of specialty care, or more complex laboratory procedures—all not infrequently replacing the careful medical history and physical examination.

scholarly journals VP11.20: Anal atresia as the diagnostic clue in VACTERL association: a first trimester case report

2021 ◽  
Vol 58 (S1) ◽  
pp. 142-142
Author(s):  
Y. Wang ◽  
X. Dai ◽  
M.H. Liu ◽  
Y. Li ◽  
L. Li ◽  
...  
Keyword(s):  
Case Report ◽  
First Trimester ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Diagnostic Clue

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

VACTERL Association with Situs Inversus Totalis: A Unique Combination

2019 ◽  
Vol 38 (2) ◽  
pp. 98-106 ◽  
Author(s):  
Cara L. Slagle ◽  
Elizabeth V. Schulz ◽  
David J. Annibale
Keyword(s):  
Respiratory Distress ◽  
Situs Inversus ◽  
Distress Syndrome ◽  
Situs Inversus Totalis ◽  
Term Infant ◽  
Vacterl Association ◽  
Unique Combination ◽  
Anal Atresia ◽  
Renal Malformations ◽  
Limb Malformations

BackgroundVACTERL association is a sporadic, nonrandom series of congenital malformations diagnosed by the presence of three or more of the following: vertebral malformations, anal atresia, cardiac defects, tracheoesophageal fistula, renal malformations, and limb malformations. Situs inversus totalis (SIT) and esophageal malformations are rarely associated. This is the first reported case in North America of VACTERL association with SIT.Implications for PracticeRespiratory distress in the term infant requires full exploration of all possible causes because the etiology may be far more complex than routinely diagnosed respiratory distress syndrome. This particular case demonstrates physical exam findings and supportive imaging that would be observed in infants with VACTERL association and with SIT, highlighting considerations when, rarely, both occur simultaneously.

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