Brushfield's spots, protruded tongue and single palmar crease are characteristic features?

JODHPUR AIIMS SNO-2018

Pathology & Genetics

Easy

Appeared in: JODHPUR AIIMS SNO-2018

Explanation

Down syndrome is a genetic condition resulting from an extra copy of chromosome 21, known as Trisomy 21.
It is characterized by a distinct set of physical features, many of which are present at birth.
The triad of signs mentioned in the question—Brushfield's spots (speckled irises), a protruding tongue, and a single transverse palmar crease—are classic indicators of Down syndrome.
The provided image, which clearly shows a single palmar crease, visually confirms one of these key diagnostic features.
Other common features include a flattened facial profile, upward-slanting eyes, a short neck, and generalized hypotonia (low muscle tone).

Option B: Edwards syndrome, or Trisomy 18, has a different set of characteristic features.
Option C: Patau syndrome, or Trisomy 13, is associated with severe midline defects.
Option D: Turner syndrome (Monosomy X) affects only females and has a unique phenotype.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Clinical manifestations of chromosomal abnormalities as background academic context rather than a clinical decision trigger.
Early recognition of the physical signs of Down syndrome in a newborn is critical for prompting a definitive diagnosis through chromosomal analysis (karyotyping).
A timely diagnosis allows for immediate screening for common associated health issues, such as congenital heart defects (present in ~50% of cases), gastrointestinal anomalies, hearing loss, and thyroid dysfunction.
Initiating early intervention services (e.g., physical, occupational, and speech therapy) can significantly improve developmental outcomes and quality of life for the child and their family.

How to Approach the Question

First, carefully read the question to identify the specific clinical signs presented: Brushfield's spots, protruded tongue, and single palmar crease.
Next, examine the provided image. Recognize the distinct feature shown is a single transverse palmar crease, which reinforces one of the key signs mentioned in the stem.
Access your knowledge of common genetic syndromes and their characteristic physical manifestations (phenotypes).
Systematically evaluate each option by comparing the given signs to the known features of each syndrome.
Recall that the combination of Brushfield's spots, a protruding tongue, and a single palmar crease is a classic triad for Down syndrome.
Rule out the other syndromes as their key features (e.g., clenched hands in Edwards, midline defects in Patau, webbed neck in Turner) do not match the signs in the question.

Concept Tested & Keywords

QG1Q1QByiP8vV28qpiqT9a

E6 Anatomy Applied Ashalatha 4e p. 469-471

E6 Nelson Textbook of Pediatrics(2024) — Volume 1 p. 410-412

E6 Obstetrics Williams p. 5-15