Accompanied anomalies in anal atresia or tracheo‐esophageal fistula: Comparison with or without VACTERL association

2021 ◽  
Author(s):  
Ji Hyun Ahn ◽  
Hee Joung Choi
2014 ◽  
Vol 2 (02) ◽  
pp. 96-99
Author(s):  
Girish Gopal ◽  
Gangadhar B. Belavadi

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.


2018 ◽  
Vol 37 (3) ◽  
pp. 280-283
Author(s):  
Mukunda Timilsina ◽  
Eva Gauchan ◽  
Deepak Prasad Koirala

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.


2021 ◽  
Vol 58 (S1) ◽  
pp. 142-142
Author(s):  
Y. Wang ◽  
X. Dai ◽  
M.H. Liu ◽  
Y. Li ◽  
L. Li ◽  
...  

PEDIATRICS ◽  
1991 ◽  
Vol 87 (3) ◽  
pp. 390-392
Author(s):  
FRED LEVINE ◽  
MAXIMILIAN MUENKE

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


2019 ◽  
Vol 38 (2) ◽  
pp. 98-106 ◽  
Author(s):  
Cara L. Slagle ◽  
Elizabeth V. Schulz ◽  
David J. Annibale

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.


Author(s):  
Dr. Priya Singh ◽  
Prof. Dr. Ghazi Sharique Ahmad ◽  
Prof. Dr. Ahmad Rizwan Karim

The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member. VACTERL association is an association of birth defects that affects multiple parts of the body. It includes vertebral or vascular anomalies, anal atresia, cardiac defects, tracheoesophageal – fistula/esophageal atresia, renal defects, and limbs defects. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The diagnosis of VACTERL-H Syndrome is majorly based upon the complete physical examination and a few specialized tests to ascertain the features of the syndrome. The treatment of VACTERL-H is directed towards the specific symptoms that are apparent in each individual, which often varies greatly. The management of patients with VACTERL/VATER association typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations. If optimal surgical correction is achievable, the prognosis can be relatively positive. Hence early diagnosis and early interventions are needed to prevent morbidity and mortality. Key words: VACTERL-H syndrome, congenital malformations, clinical examinations


2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Hashinee Weraduwage ◽  
Nicholas Manton ◽  
Christopher P. Barnett

AbstractCasamassima-Morton-Nance (CMN) syndrome (OMIM 271520) has clinical overlap with spondylocostal dysostosis and Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Radial/Renal, Limb (VACTERL) association but with consistent features of anal and urogenital abnormalities, particularly ambiguous genitalia. Since the original report, it has become clear that the combination of vertebral segmentation abnormalities, rib abnormalities, and urogenital anomalies may enable prenatal diagnosis of CMN by ultrasound. CMN syndrome is an important diagnosis to consider prenatally because of the generally poor prognosis compared to the more common VACTERL association. Here we present the seventh reported case of CMN syndrome. Prenatally presenting features of multiple segmentation anomalies within the spine, a left multi-cystic dysplastic kidney, marked pelvicaliectasis with abnormal renal parenchyma and a small stomach were suggestive of VACTERL association. There was severe oligohydramnios. Termination of pregnancy was performed at 22 weeks gestation and autopsy revealed dysmorphic coarse facial features, marked scoliosis, bilateral talipes, ambiguous external genitalia, and anal atresia. These features were highly suggestive of CMN syndrome. The important discriminating feature of ambiguous genitalia was not apparent on the prenatal ultrasound in this case because of severe oligohydramnios but we suggest that careful prenatal ultrasound assessment of the genitalia in cases of suspected VACTERL is important in differentiating these two conditions.


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