Neonate with VACTERL association: a rare entity

Authors

  • Sandhya Chauhan Department of Dermatology, Venereology and Leprosy, MGMSC, Khaneri, Shimla, Himachal Pradesh, India
  • Ashok Garg Department of Pediatrics, MGMSC, Khaneri, Shimla, Himachal Pradesh, India
  • Pancham Kumar Department of Pediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
  • Ambika Sood Department of Pediatrics, Civil Hospital, Sunni, Shimla, Himachal Pradesh, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20172708

Keywords:

Limb defects, Polyhydramnios, Tracheoesophageal

Abstract

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.

References

Velazquez D, Pereira E, Havranek T. Neonate with VACTERL association and a branchial arch anomaly without hydrocephalus. AJP Rep 2016;6(1):74-6.

Bhagat M. VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. OMCR. 2015;10:62.

Ramosa JA, Shashank S. Shettarb SS, James CF. Neuraxial analgesia in a parturient with the VACTERLassociation undergoing labor and vaginal delivery. Rev Bras Anestesiol. 2016;343-9.

Shaw-Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet. 2010;53(1):6-13.

Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W, et al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet. 2016;53:431-7.

Cevik MO, Celik M, Bucak IH, Almis BH, Turgut M. Possible relation of antenatal venlafaxine Use and VACTERL association in a Newborn: A case report. Turkish J Psychiatr. 2017;28(1).

Bjørsum-Meyer T, Herlin M, Qvist N, Petersen MB. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature. J Medical Case Reports. 2016;10(1):374.

Reddy AKV, Soren C. VACTERL association in a newborn- A rare case report. IOSR- J Dental Med Sci. 2017;16(1):31-3.

Vedmedovaska N, Fodina V, Polukarova S. VACTERL association after infertility treatment- a case report. Internat J Diagnost Imaging. 2016;3:2.

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Published

2017-06-21

Issue

Section

Case Reports