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Isolation of Human Primary Valve Cells for In vitro Disease Modeling

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Published on: April 16, 2021

VACTERL Association.

Dharmendra B Pandey¹, Sangeeta J Pednekar, Swati A Chavan

¹Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai - 400 022.

The Journal of the Association of Physicians of India

|February 10, 2012

Summary

This summary is machine-generated.

This case report details a rare instance of VACTERL Association in a primigravida patient. The condition involves multiple congenital anomalies, including vertebral defects, cardiac defects, and limb abnormalities.

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Area of Science:

Medical Case Reports
Clinical Genetics
Developmental Biology

Background:

VACTERL Association is a rare complex of congenital anomalies affecting multiple organ systems.
Diagnosis requires at least three of the seven characteristic anomalies: Vertebral, Anal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects.
This report presents a unique case in a 23-year-old primigravida.

Observation:

The patient presented with fever and gastroenteritis, alongside significant congenital developmental defects.
Observed anomalies included scoliosis (Vertebral), a small ventricular septal defect (Cardiac), right-sided hemifacial dysmorphic features with mandibular hypoplasia, a small right kidney (Renal), and bilateral hypoplastic thumbs (Limb).

Findings:

The patient exhibited four of the seven defining anomalies of VACTERL Association, meeting the diagnostic criteria.
The combination of vertebral, cardiac, renal, and limb anomalies in this case highlights the varied presentation of VACTERL Association.

Implications:

This case underscores the importance of recognizing VACTERL Association in patients presenting with multiple congenital anomalies.
Early and accurate diagnosis is crucial for appropriate management and genetic counseling.
Further research into the etiology and management of VACTERL Association is warranted.