scholarly journals Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

2013 ◽  
Vol 4 (1-2) ◽  
pp. 63-73 ◽  
Author(s):  
S. Siebel ◽  
B.D. Solomon
Keyword(s):  
Congenital Malformations ◽  
Vacterl Association

scholarly journals VACTERL-H SYNDROME – A CASE REPORT

2019 ◽  
Vol 3 (9) ◽  
Author(s):  
Dr. Priya Singh ◽  
Prof. Dr. Ghazi Sharique Ahmad ◽  
Prof. Dr. Ahmad Rizwan Karim
Keyword(s):  
Congenital Malformations ◽  
Failure To Thrive ◽  
Facial Asymmetry ◽  
Postnatal Period ◽  
The Body ◽  
Surgical Correction ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Vater Association ◽  
Ear Malformations

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

scholarly journals Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Meltem Özdemir ◽  
Rasime Pelin Kavak ◽  
Önder Eraslan
Keyword(s):  
Upper Limb ◽  
Congenital Malformations ◽  
Unusual Case ◽  
Septal Defect ◽  
Congenital Abnormalities ◽  
Vacterl Association ◽  
Skeletal Abnormality ◽  
Fibular Hemimelia ◽  
Unusual Association ◽  
Proximal Femoral Focal Deficiency

Meromelia is a rare skeletal abnormality characterized by the partial absence of at least one limb. Several mechanisms have been postulated to explain the etiopathogenesis of the disorder. Most of the cases of meromelia are reported to be sporadic. It can occur either in isolation or with other congenital malformations. VACTERL association, gastroschisis, atrial septal defect, proximal femoral focal deficiency, and fibular hemimelia are the congenital abnormalities reported to be in association with meromelia. However, no other congenital abnormalities in association with meromelia have been recorded to date. We herein present an unusual case of bilateral upper limb meromelia accompanied by unilateral oligodactyly and brachymesophalangy of the foot.

scholarly journals Neonate with VACTERL association: a rare entity

2017 ◽  
Vol 4 (4) ◽  
pp. 1551
Author(s):  
Sandhya Chauhan ◽  
Ashok Garg ◽  
Pancham Kumar ◽  
Ambika Sood
Keyword(s):  
Congenital Malformations ◽  
Genetic Factors ◽  
Developmental Defect ◽  
Rare Entity ◽  
Vacterl Association ◽  
Anal Atresia ◽  
Rare Association ◽  
Multiple Organs ◽  
Healthy Mother ◽  
Random Occurrence

VACTERL (Vertebral, anal, cardiac, tracheoesophageal, renal and limb) is an acronym for cluster of congenital malformations including Vertebral or Vascular anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula/Esophageal atresia, Renal and Limb defects. It is a rare association with sporadic and non-random occurrence where multiple organs are affected due to developmental defect during blastogenesis. Exact cause is unknown but multiple environmental and genetic factors have been implicated. For diagnosis, three components of VACTERL association are needed however patient may have other congenital malformations also. Here we report a newborn with VACTERL association born to a healthy mother by cesarean section for polyhydramnios with unstable lie.

Studies on Thalidomide as a Cause of Congenital Malformations

1963 ◽  
Vol 02 (02) ◽  
pp. 49-51 ◽  
Author(s):  
K. Knapp ◽  
W. Lenz
Keyword(s):  
Federal Republic ◽  
Congenital Malformations ◽  
Chemical Substance ◽  
Federal Republic Of Germany ◽  
Virus Diseases ◽  
Many Sources

SummaryIn 1961 an increase in certain congenital malformations was noticed in various parts of the Federal Republic of Germany. From the outset, it seemed very probable that a single cause was responsible, since, although these malformations varied, they appeared to belong to one and the same syndrome. For general reasons, such causes as radioactivity, contraceptives, attempted abortions or virus diseases did not provide an acceptable explanation. The epidemiology was, however, suggestive of some chemical substance taken orally.After thalidomide had been indicated in several histories, suspicion of that drug was aroused and, within one week, intake of it could be proved or was found to be very likely in 17 out of 20 cases, while in the remaining cases it could not be excluded. Though this first result was highly significant, we were at first reluctant to incriminate thalidomide definitely, because there was still some doubt about the reliability of the histories. But within a few weeks, the thalidomide aetiology received support from many sources. Specific studies on limited material are sometimes superior to extensive, broadly planned investigations.

Diabetic environment and genetic predisposition as causes of congenital malformations in NOD mouse embryos

Diabetes ◽  
1991 ◽  
Vol 40 (10) ◽  
pp. 1245-1250 ◽  
Author(s):  
H. Otani ◽  
O. Tanaka ◽  
R. Tatewaki ◽  
H. Naora ◽  
T. Yoneyama
Keyword(s):  
Genetic Predisposition ◽  
Congenital Malformations ◽  
Mouse Embryos ◽  
Nod Mouse

NATRIURETIC PEPTIDES LEVEL AND THE STATUS OF THE RENIN – ANGIOTENSIN-ALDOSTERONE SYSTEM IN CHRONIC KIDNEY DISEASE IN PATIENTS WITH CONGENITAL MALFORMATIONS OF THE URINARY SYSTEM

2018 ◽  
Vol 22 (5) ◽  
pp. 45-50
Author(s):  
A. M. Mambetova ◽  
A. M. Inarokova ◽  
N. N. Shabalova ◽  
D. V. Bizheva ◽  
A. T. Mahiyeva
Keyword(s):  
Congenital Malformations ◽  
Control Group ◽  
Healthy Children ◽  
Urinary System ◽  
Renin Angiotensin Aldosterone System ◽  
Natriuretic Hormone ◽  
Renin Angiotensin ◽  
Group I ◽  
The Status ◽  
Sick Children

THE AIM. To determine the concentration of natriuretic peptide in the blood serum in children with congenital malformations of the urinary system (CM US) and to compare with the activity of renin-angiotensin-aldosterone system (RAAS).MATERIALS AND METHODS.119 patients with CM US aged 3 to 18 years were examined. A control group of 10 clinically healthy children. 3 groups were assigned: group I – 55 children with  congenital vesicoureteral reflux, and group II – 34 children with  congenital hydronephrosis and ureterohydronephrosis, III group – 30 children with other forms of dysembryogenesis of the US. Following indicators were identified by ELISA in the blood: renin, aldosterone,  N – terminal propeptide natriuretic hormone (NT-рroВNР). RESULTS.NT-рroВNР, renin and aldosterone hyperproduction were diagnosed in 59,6%, 69,7%, 54.6 % of sick children relatively. Concentrations were higher in all variants of  malformations in comparison with the control group. Significant  differences were revealed in obstructive species, where arterial  hypertension (AH) was diagnosed more often. Patients with AH  recorded significantly higher concentrations of NT-proВNР and renin.CONCLUSION.The key point in pathological processes developmentand progression in the cardiovascular system and kidneys is the  activation of RAAS. The system of natriuretic factors is important in maintaining the compensated state of patients due to the blockade of RAAS.

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