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VACTERL association - Ultrasound findings and autopsy correlation
Naman Kumar Gaur1, Sudheer Gokhale1
1Department of Radiodiagnosis, Sri Aurobindo Institute of Medical Sciences and Post Graduate Institute, Indore, Madhya Pradesh, India.
The Indian Journal of Radiology & Imaging
|January 22, 2019
Summary
VACTERL (vertebral, anal, cardiac, tracheoesophagus, renal, and limbs) association is a rare congenital condition affecting multiple organs. This study correlates antenatal scans with autopsy findings in a VACTERL spectrum case.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- VACTERL association is a rare, non-random congenital malformation affecting multiple organ systems.
- It involves vertebral, anal, cardiac, tracheoesophageal, renal, and limb defects, with varying combinations.
- The etiology is largely unknown, but genetic and environmental factors are implicated.
Purpose of the Study:
- To present a case study of VACTERL association.
- To correlate antenatal imaging findings with autopsy results.
- To illustrate a specific manifestation within the VACTERL spectrum.
Main Methods:
- Antenatal ultrasound examination.
- Post-mortem autopsy.
- Case review and correlation of findings.
Main Results:
- The study presents a case with specific VACTERL malformations identified antenatally.
- Autopsy confirmed the antenatal findings, providing detailed pathological correlation.
- The case highlights a particular presentation within the VACTERL spectrum.
Conclusions:
- Antenatal diagnosis is crucial for VACTERL association.
- Autopsy provides essential confirmation and detailed insights into VACTERL spectrum.
- Understanding VACTERL spectrum aids in diagnosis and management of congenital anomalies.
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