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

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.

2017 ◽  
Vol 68 (11) ◽  
pp. 2694-2699
Author(s):  
Corina Ciupilan ◽  
Marius Valeriu Hinganu ◽  
Delia Hinganu ◽  
Oana Elena Ciurcanu ◽  
Mihaela Monica Scutariu

Labio-maxilo-palatine clefts are embryogenesis disorders of the stomatognathic system that occur due to the action of genetic or non-genetic factors in weeks 5-6 of intrauterine life. The clefts are part of the group of congenital malformations of the face. They appear from birth as a slit in the upper lip, hard palate and/or soft palate.Labio-maxilo-palatine cleafts are a current medical problem, especially regarding surgical recovery; they are congenital malformations of the face characterized by the absence of substance in the upper lip and/or in the palatine vault caused by the lack of fusion of labial and / or palatine buds during embryonic development.Simple labial cleft concerns only the lip, unlike the complete labial cleft which affects also the alveolar maxillary arch. In the case of this malformation, more serious than labial cleft, the cleft also affects the bone structures (the alveolar maxillary arche, the buccal palate) so that the oral cavity communicates with the nasal cavity and prevents sucking in infants. An early surgical recovery restores the integrity of anatomical structures, reestablishes disturbed functions, creates favorable conditions for speech education and social adaptation of the child according to age.The procedure is applied prior to the primary suture of the lip and of the anterior palate in order to minimize the dislocation of the segments of the maxillary arch. The correction of the malformation of the jaw arch in the case of bilateral clefts is much more difficult, but it has a greater importance due to the difficulty of reconstruction of the muscular plan and severe deformations, what will persist if the segments can not be aligned.In the bilateral clefts, the lateral segments are displaced medially, and the medial segment is protruding. The purpose of preoperative orthodontic treatment is to reposition the lateral segments so that the medial segment can be coaxed between them together as a vault key of the maxillary arch. In order to study the occurrence of labio-palatine cleft, we used eight groups of Wistar females rat, weighing between 200 and 250 grams. Each sample consists of 10 females rats. Most of the labial and palatine clefts are the result of multiple, genetic and non-genetic factors, each producing a minor developmental defect, called multifactorial heritage;It can be represented by a model in which responsibility for a disease is a variable caused by a combination of genetic and environmental factors. The therapeutic outcome depends on the complexity of the malformation, on the moment of surgery and on the selection of the most modern techniques and equipment suitable for the patient.


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


2016 ◽  
Vol 33 (3) ◽  
pp. 653-662
Author(s):  
Rumiko Kan ◽  
Masayuki Hikita ◽  
Masahiko Uejima ◽  
Hirooki Yabe

2016 ◽  
Vol 31 (11) ◽  
pp. 2025-2033 ◽  
Author(s):  
Heiko Reutter ◽  
Alina C. Hilger ◽  
Friedhelm Hildebrandt ◽  
Michael Ludwig

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

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Satomi Yogosawa ◽  
Makiko Ohkido ◽  
Takuro Horii ◽  
Yasumasa Okazaki ◽  
Jun Nakayama ◽  
...  

AbstractCongenital malformations cause life-threatening diseases in pediatrics, yet the molecular mechanism of organogenesis is poorly understood. Here we show that Dyrk2-deficient mice display congenital malformations in multiple organs. Transcriptome analysis reveals molecular pathology of Dyrk2-deficient mice, particularly with respect to Foxf1 reduction. Mutant pups exhibit sudden death soon after birth due to respiratory failure. Detailed analyses of primordial lungs at the early developmental stage demonstrate that Dyrk2 deficiency leads to altered airway branching and insufficient alveolar development. Furthermore, the Foxf1 expression gradient in mutant lung mesenchyme is disrupted, reducing Foxf1 target genes, which are necessary for proper airway and alveolar development. In ex vivo lung culture system, we rescue the expression of Foxf1 and its target genes in Dyrk2-deficient lung by restoring Shh signaling activity. Taken together, we demonstrate that Dyrk2 is essential for embryogenesis and its disruption results in congenital malformation.


2010 ◽  
Vol 16 (3) ◽  
pp. 115-117
Author(s):  
Gustavo Rassier Isolan ◽  
Lucas Scotta Cabral ◽  
Cláudio Galvão de Castro Júnior ◽  
Ápio Cláudio Antunes ◽  
Gilberto Schwartsmann ◽  
...  

Although basal ganglia calcifications were described a long time ago,1,3,11 the association of leukoencephalopathy, cerebral calcifications, and cysts (LCC) is a very rare entity described in 1996.5 We present a new case of LCC and discuss clinical, neuroradiologic, and histopathologic findings regarding this association.


1969 ◽  
Vol 40 (1) ◽  
pp. 85-94
Author(s):  
Fernando Suárez Obando ◽  
Adriana Ordóñez ◽  
Marisol Macheta

Introduction: The diseases that are partly or wholly determined by genetic factors, gradually assume a ratio of greater importance in the epidemiological profile of the child population, becoming one of the leading causes of mortality and morbidity. The perception of mothers of children affected by major congenital malformations has not been studied before in relation to the health system in Colombia. Objectives: To know the mother’s perceptions of children with congenital malformations, on the etiology of the disease for their children, medical care received and the potential consequences of the malformation. Methods: Qualitative exploratory descriptive study of focus groups with mothers of children suffering from major congenital malformations. Results: Mothers identified the problems of child care in relation to the health system, treatment ambivalent and prejudice of health personnel and the need for clear answers on the future of children, as well as the need for reforms in the health care of people affected.


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


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