All of the following are clinical presentations of Fragile X Syndrome, except -

Appeared in: UPPSC 2023

Explanation

The correct option is 'Small head' because it is not a clinical feature of Fragile X Syndrome (FXS).
A key characteristic of FXS is macrocephaly, which means an abnormally large head circumference.
Therefore, a small head (microcephaly) is the opposite of what is typically observed and is the correct answer for this 'except' question.

Option A: A large head (macrocephaly) is a well-documented and common physical finding in individuals with Fragile X Syndrome.
Option B: While growth patterns can vary, it is not uncommon for adults with Fragile X Syndrome to have a final height that is slightly shorter than the family average.
Option D: Large, prominent, and low-set ears, often described as 'bat-like,' are a hallmark facial feature of Fragile X Syndrome.

Clinical Relevance

Nursing practice connection: Knowing Identifying the clinical features of Fragile X Syndrome helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Early recognition of the physical features of Fragile X Syndrome, such as a large head and prominent ears in a child with developmental delays, can prompt a nurse to recommend genetic screening.
Nurses caring for patients with FXS must be aware of associated medical issues like recurrent otitis media, seizures, and mitral valve prolapse for comprehensive monitoring and care.
What if? If a child presented with developmental delay and a small head (microcephaly), the nurse would consider other genetic syndromes or causes (like congenital infections), as this finding is inconsistent with Fragile X Syndrome.

How to Approach the Question

First, identify that the question uses the word 'except'. This means you are looking for the option that is NOT true or is the outlier.
Read the stem of the question to understand the core topic: 'clinical presentations of Fragile X Syndrome'.
Review each option and recall the known physical characteristics of this syndrome.
Evaluate each option against your knowledge: Is a large head a feature? Yes (macrocephaly). Is short stature a feature? It can be. Are large ears a feature? Yes, a classic one.
Identify the option that contradicts the known features. A 'small head' is the direct opposite of the known feature of a 'large head' (macrocephaly).
Therefore, 'Small head' is the correct answer as it is the exception.

Concept Tested & Keywords

Concept Tested: Identifying the clinical features of Fragile X Syndrome.
Stem keywords: Fragile X Syndrome, clinical presentations
Lead-in keywords: except
Negative lead-in flag: The question asks for the feature that is NOT a clinical presentation of Fragile X Syndrome.

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E6 Nelson Textbook of Pediatrics(2024) — Volume 1 pp. 428-430, 430-432

Practise the full UPPSC 2023

Attempt every question from this paper in a timed mock, then review the full solution for each one.