Pediatrics · Pediatric Genetic Syndromes and Dysmorphology (Detailed)

A neonate is found to have vertebral anomalies, esophageal atresia with distal tracheoesophageal fistula, and imperforate anus. Echocardiography shows a ventricular septal defect. Renal ultrasound is unilateral renal agenesis. What term best describes this pattern?

  • A VACTERL association
  • B CHARGE syndrome
  • C Potter sequence
  • D Goldenhar syndrome
Correct answer: A. VACTERL association

Explanation

The nonrandom co-occurrence of Vertebral defects, Anal atresia, Cardiac malformations, TracheoEsophageal fistula, Renal anomalies, and Limb abnormalities defines the VACTERL association. It is usually sporadic, and affected infants need screening echocardiography and renal imaging even when findings appear limited. CHARGE involves coloboma, choanal atresia, cranial nerve dysfunction, ear anomalies, and growth and developmental delay, none of which are present here.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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