Pediatric Nursing

Term baby boy is admitted to Neonatal Intensive Care Unit.

Physical examination revealed flattened nose, low set ears, upward slanting eyes, gle palmer crease. Which of the following is the possible diagnosis of the new-born?

  1. A Cushing syndrome
  2. B Down syndrome Correct answer
  3. C Intra-Uterine Growth Retardation
  4. D Congenital hypothyroidism

Explanation

Core Concept: Down syndrome (Trisomy 21) is a chromosomal anomaly characterized by distinct physical (dysmorphic) features, hypotonia, and varying degrees of intellectual disability.

Clinical Presentation:

  • Flattened facial profile/nose, upward slanting palpebral fissures, epicanthal folds.
  • Low-set ears, single transverse palmar crease (Simian crease), and hypotonia.

Diagnosis:

  • *First-line:* Clinical physical assessment of dysmorphic features.
  • *Gold Standard:* Karyotype analysis (chromosomal microarray) confirming Trisomy 21.

Management:

  • *Acute:* Recognize the physical signs to initiate appropriate genetic counseling and early intervention referrals.
  • *Definitive:* Multidisciplinary care including echocardiogram (to rule out congenital heart defects), thyroid screening, and early developmental therapies.

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