scholarly journals Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

2011 ◽  
Vol 51 (2) ◽  
pp. 87-91 ◽  
Author(s):  
Benjamin D. Solomon ◽  
Manu S. Raam ◽  
Daniel E. Pineda-Alvarez
Keyword(s):  
Esophageal Fistula ◽  
Anal Atresia ◽  
Renal Anomalies ◽  
Cardiac Malformations ◽  
Vertebral Anomalies ◽  
Genitourinary Anomalies

scholarly journals THE POSSIBILITIES OF MUSEUM STUDYING OF VACTERL SYNDROME

2017 ◽  
Vol 3 (4) ◽  
pp. 201-205
Author(s):  
V.V. Gargin ◽  
Yu.V. Kurchanova ◽  
Yu.I. Ivanteeva
Keyword(s):  
Museum Collection ◽  
Esophageal Fistula ◽  
Pathological Anatomy ◽  
Anal Atresia ◽  
Renal Anomalies ◽  
Museum Exhibits ◽  
Perinatal Pathology ◽  
National Medical ◽  
Vertebral Anomalies ◽  
Medical University

The article deals with VACTERL association, particularly non randomly associated birth defects, typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. Museum collection of the Department of Pathological Anatomy of Kharkiv National Medical University, which devoted to prenatal and perinatal pathology, has numerous museum exhibits representing this pathology. The specimens help to discuss pathological anatomy of each of these defects.KeyWords:  fetus, VACTERL, congenital defect.Курчанова Ю.В., Івантеєва Ю.І., Гаргін В.В.МОЖЛИВОСТІ МУЗЕЙНОГО ВИВЧЕННЯ СИНДРОМУ VACTERLСтатья посвящена синдрому VACTERL - закономерно объединенным врожденным патологиям развития. Для постановки синдрома необходимо присутствие не менее трех из следующих дефектов: аномалии позвоночника, анальная атрезия, пороки сердца, трахеопищеводный свищ, почечные аномалии и аномалии конечностей. Музейная коллекция кафедры патологической анатомии ХНМУ, посвященная пре- и перинатальной патологии, имеет множество учебных макропрепаратов, которые описывают синдром VACTERL. На их примере мы обсудим каждый характерный дефект развития.Ключевые слова: плод, VACTERL, врожденный дефект Курчанова Ю.В., Ивантеева Ю.И., Гаргин В.В.ВОЗМОЖНОСТИ МУЗЕЙНОГО ИЗУЧЕНИЯ СИНДРОМА VACTERLСтаття присвячена синдрому VACTERL - закономірно об'єднаним вродженим патологіям розвитку. Для постановки синдрому необхідна наявність не менше трьох з наступних дефектів: аномалії хребта, анальна атрезія, пороки серця, трахеостравоходний свищ, ниркові аномалії і аномалії кінцівок. Музейна колекція кафедри патологічної анатомії ХНМУ, присвячена пре- і перинатальній патології, має велику кількість навчальних макропрепаратів, які описують синдром VACTERL. На їхньому прикладі ми обговоримо кожен характерний дефект розвитку.Ключові слова: плід, VACTERL, вроджений дефект

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

scholarly journals Anorectal malformation with apple peel atresia: case report of a rare association

2018 ◽  
Vol 5 (11) ◽  
pp. 3778
Author(s):  
Archana M. Kamble ◽  
Rajendra Saoji
Keyword(s):  
Surgical Intervention ◽  
Anorectal Malformations ◽  
Anal Atresia ◽  
Renal Anomalies ◽  
Rare Association ◽  
Distended Abdomen ◽  
Apple Peel ◽  
Vertebral Anomalies ◽  
Wide Gap ◽  
Apple Peel Atresia

Anorectal malformations (ARM) are common congenital malformations. They are mostly associated with other congenital anomalies including but not limited to vertebral anomalies, cardiac malformations, Tracheoesophageal fistula, esophageal atresia, Renal anomalies, limb anomalies and aneuploidy (Trisomy 21). Apple-peel atresia or ‘Christmas-tree deformity’ consists of a high jejunal atresia with discontinuity of the small bowel and a wide gap in the mesentery. Association of Apple peel atresia with ARM has been reported by many authors in past and in any neonate presenting with ARM proximal atresia needs to be ruled out before surgical intervention is undertaken and newborns with ARM and presenting with drooling of saliva, bilious or non-bilious vomiting in presence of non-distended abdomen must give rise to a suspicion of associated atresia. We are reporting this case of high anal atresia with apple peel atresia of terminal ileum who was treated by double barrel ileostom to emphasize the importance of knowing this association.

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 De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene

2011 ◽  
Vol 91 (9) ◽  
pp. 862-865 ◽  
Author(s):  
Benjamin D. Solomon ◽  
Daniel E. Pineda-Alvarez ◽  
Donald W. Hadley ◽  
Amelia A. Keaton ◽  
Nneamaka B. Agochukwu ◽  
...  
Keyword(s):  
Candidate Gene ◽  
De Novo ◽  
Esophageal Fistula ◽  
Cardiac Defects ◽  
Genitourinary Anomalies

scholarly journals Co-Existence of a Rudimentary Non-Communicating Horn with a Unicornuate Uterus in Association with 2 Components of the VACTERL Association: A Case Report

2021 ◽  
pp. 1-4
Author(s):  
Jose D Roman ◽  
Jose D Roman
Keyword(s):  
High Risk ◽  
Anorectal Malformations ◽  
Uterine Horn ◽  
Vacterl Association ◽  
Renal Anomalies ◽  
Rudimentary Horn ◽  
Unicornuate Uterus ◽  
Rudimentary Uterine Horn ◽  
Uterine Anomalies ◽  
Vertebral Anomalies

The prevalence of congenital uterine anomalies has been reported as 6.7% in the general population. The unicornuate uterus accounts for 2.4-13% of all Mullerian anomalies and has a prevalence of 1:1000. A unicornuate uterus may be present alone or with a rudimentary horn and 75-90% of rudimentary horns are non-communicating. A pregnancy in the rudimentary horn may lead to uterine rupture, haemoperitoneum with a high risk of maternal mortality. The association of a unicornuate uterus with a non-communicating uterine horn to the VACTERL association of defects (vertebral anomalies, anorectal malformations, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies and limb defects) has been described only twice in the literature. We report a patient who was born with an extra thumb and had a trachea-bronchial remnant with oesophageal stenosis that were both operated on earlier, and they were associated with a non-communicating rudimentary uterine horn. To the best of our knowledge, this is the third case reported in the literature of a VACTERL association to a unicornuate uterus with a non-communicating functional rudimentary horn. Given the high risk for the patient if pregnant an early diagnosis is paramount. This case highlights the importance of considering Mullerian defects in the young patient born with components of the VACTERL association.

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