Which of the following is NOT a clinical manifestation of Trisomy 21?

AIIMS Patna NO - 2020

Child Health Nursing (Pediatrics)

Easy

Appeared in: AIIMS Patna NO - 2020

Explanation

'Long hands and fingers' because it is not a characteristic feature of Trisomy 21 (Down syndrome).
Individuals with Down syndrome typically present with short, broad hands, a condition known as brachydactyly.
Other common hand findings in Down syndrome include a single transverse palmar crease (simian crease) and an inward curve of the fifth finger (clinodactyly).
In contrast, long, slender fingers (arachnodactyly) are a hallmark feature of other genetic disorders, such as Marfan syndrome.

Option A: A flat nasal bridge is a classic and very common craniofacial feature observed in individuals with Down syndrome, contributing to their characteristic flat facial profile.
Option B: A protruding tongue is a common finding in Down syndrome. It is often the result of a smaller-than-average oral cavity (micrognathia and a narrow palate) combined with relative tongue enlargement (macroglossia) and generalized low muscle tone (hypotonia).
Option D: A small nose is a characteristic feature of Down syndrome, which, along with the flat nasal bridge, contributes to the midfacial hypoplasia seen in this condition.

Clinical Relevance

Nursing practice connection: Knowing Clinical manifestations of Trisomy 21 (Down Syndrome) helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
A nurse's ability to recognize the constellation of physical features of Down syndrome at birth is crucial for early identification, which facilitates prompt diagnostic confirmation and initiation of appropriate care.
Early diagnosis allows the healthcare team to provide timely support and education to the family, addressing their concerns and connecting them with resources.
Nurses play a key role in screening for and managing the common comorbidities associated with Down syndrome, such as congenital heart defects, hearing and vision problems, and thyroid dysfunction.

How to Approach the Question

First, carefully read the question and identify the negative keyword 'NOT'. This means you are looking for the option that is inconsistent with the diagnosis.
The question asks about the clinical manifestations of Trisomy 21, which is another name for Down syndrome.
Recall the classic physical features of Down syndrome. Think about the overall appearance: facial features, stature, and extremities.
Evaluate each option against your knowledge of Down syndrome's phenotype.
Option A (Flat nasal bridge), Option B (Protruding tongue), and Option D (Small nose) are all well-known, classic features.
Option C (Long hands and fingers) is the outlier. Remember that individuals with Down syndrome have short, broad hands, not long ones.

Concept Tested & Keywords

Concept Tested: Clinical manifestations of Trisomy 21 (Down Syndrome)
Stem keywords: Trisomy 21, clinical manifestation
Lead-in keywords: NOT
Negative lead-in flag: Question asks to identify the option that is NOT a clinical manifestation.

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