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

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 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

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.

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 Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association? A Case Report

2020 ◽  
pp. 15-19
Author(s):  
Urire Idholo ◽  
Chika O. Duru ◽  
Ofure Okosun ◽  
Imaculata I. Tunde- Oremodu ◽  
Stanley Ogoinja
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Septal Defect ◽  
Plantar Flexion ◽  
Ductus Arteriosus ◽  
Posterior Urethral Valves ◽  
Congenital Defects ◽  
Vacterl Association ◽  
Multiple Congenital Anomalies ◽  
Renal Anomalies

Introduction: VACTERL association is a rare congenital defect. It is a constellation of the involvement of six systems which comprise of vertebral defects, anal atresia, cardiac defects, trachea-oesophageal fistula, renal anomalies and limb abnormalities.  At least three systems should be involved before VACTERL is suspected and in many cases, it is difficult to differentiate it from other multiple congenital anomalies. Case Report: We present a day old preterm neonate who presented with respiratory distress and abdominal distension at birth. Late pregnancy ultrasound done at 34 weeks gestation showed a singleton fetus with gross ascites, dilated urinary bladder and bilateral calyceal dilatation. On examination, he had hyper-plantar flexion of the left ankle joint, ascites and a loud systolic murmur. Abdominal scan showed bilateral renal stones with medullary sponge kidneys, gaseous distension of the bowels and massive ascites. Transthoracic echocardiography showed a 10 mm ostium secundum atrial septal defect, 6 mm perimembranous ventricular septal defect and a 3 mm patent ductus arteriosus. Micturating cystourography showed a dilated posterior urethra with an appearance of a ring lucent filling defect at the membranous urethra and an irregular and beading distal urethra which was suggestive of posterior urethral valves (diaphragmatic type). Conclusion: VACTERL association occurs sporadically in most cases and presentation is varied depending on the degree of systemic affectation. Our patient presented with a constellation of congenital defects which could all fit into the criteria for VACTERL association, however because of the lack of genetic testing, it is difficult to determine if this is just a chance occurrence of multiple congenital anomalies.

A case report of VACTERL syndrome (anorectal, cardiac and renal malformations)

Pediatru ro ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 46-49
Author(s):  
Emilia Pop ◽  
Alina Grama ◽  
Alexandra Mititelu ◽  
Claudia Simu ◽  
Patricia Lorinţiu ◽  
...  
Keyword(s):  
Septal Defect ◽  
Rare Condition ◽  
Male Infant ◽  
Complex Spectrum ◽  
Vacterl Association ◽  
Severe Metabolic Acidosis ◽  
Renal Anomalies ◽  
Case Presentation ◽  
Renal Malformations ◽  
The Right

Introduction. VACTERL is a rare condition, named after the spectrum of malformations characterizing it: vertebral/vas­cu­lar anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, limb ano­ma­lies. Case presentation. We report the case of a male infant who presented in our clinic with the suspicion of inborn error of metabolism due to the severe metabolic acidosis and hypoglycemia. He was operated in the second day of life for imperforate anus and rectoperineal fistula. The radiological examination revealed severe bronchopneumonia for which he required antibiotic treatment and electrolyte infusions for the correction of the acidosis. Starting from the anorectal anomalies, we performed imagistic investigations that detected atrial septal defect and unilateral kidney agenesis. Based on the presence of three specific anomalies, we could establish the diagnosis of VACTERL association and we started the supportive treatment. Conclusions. VACTERL association is a complex spectrum of malformations, some of them with high mortality if they are not corrected on the right moment.

Increased Prevalence of Ventricular Septal Defect: Epidemic or Improved Diagnosis

PEDIATRICS ◽  
1989 ◽  
Vol 83 (2) ◽  
pp. 200-203
Author(s):  
Gerard R. Martin ◽  
Lowell W. Perry ◽  
Charlotte Ferencz
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Coarctation Of The Aorta ◽  
Cardiovascular Malformations ◽  
Ventricular Septal Defects ◽  
Live Births ◽  
Septal Defects ◽  
Clinical Diagnoses ◽  
Control Study

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P<.025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P< .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P<.001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P<.001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."

scholarly journals Transient hypogammaglobulinemia of infancy

2014 ◽  
Vol 01 (01) ◽  
pp. 1-9
Author(s):  
Adi Ovadia ◽  
Ilan Dalal
Keyword(s):  
Molecular Basis ◽  
Clinical Manifestations ◽  
Significant Progress ◽  
Distinct Entity ◽  
Definition Of

Transient hypogammaglobulinemia of infancy (THI) was first described as a distinct entity by Gitlin and Janeway in 1956. Although THI has been recognized for many years, and despite significant progress in understanding the molecular basis and identifying the genes involved in the pathogenesis of many other forms of humoral immunodeficiencies, not much is known about this specific entity. This article summarizes the definition of THI, possible etiologies, clinical manifestations, treatment, and prognosis.

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