Genetic and metabolic disorders: Apert versus Crouzon syndrome: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Genetic and metabolic disorders: Apert versus Crouzon syndrome

Sample item

Two infants have coronal craniosynostosis with a tall skull, shallow orbits with proptosis and midface hypoplasia, both due to FGFR2 mutations. Which additional finding indicates Apert syndrome rather than Crouzon syndrome?

ABeaked nose with maxillary hypoplasiaBConductive hearing loss from ear anomaliesCRaised intracranial pressure from suture fusionDComplex syndactyly of the hands and feet

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

D. Complex syndactyly of the hands and feet

Apert and Crouzon syndromes share craniosynostosis, proptosis and midface hypoplasia. Apert syndrome also has symmetric complex syndactyly of the hands and feet, giving a mitten appearance, and Crouzon syndrome has normal hands and feet.

Option by option

A. Beaked nose with maxillary hypoplasia
A beaked nose with maxillary hypoplasia is shared by both and does not distinguish them.
B. Conductive hearing loss from ear anomalies
Conductive hearing loss occurs in both conditions and does not separate them.
C. Raised intracranial pressure from suture fusion
Raised intracranial pressure from sutural fusion occurs in both syndromes.
D. Complex syndactyly of the hands and feet (correct)
Correct. Complex syndactyly of the hands and feet separates Apert from Crouzon syndrome.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is D, Complex syndactyly of the hands and feet. Apert and Crouzon syndromes share craniosynostosis, proptosis and midface hypoplasia.

Why is "Beaked nose with maxillary hypoplasia" not the answer?

A beaked nose with maxillary hypoplasia is shared by both and does not distinguish them.

Why is "Conductive hearing loss from ear anomalies" not the answer?

Conductive hearing loss occurs in both conditions and does not separate them.

Why is "Raised intracranial pressure from suture fusion" not the answer?

Raised intracranial pressure from sutural fusion occurs in both syndromes.

What concept does this question test?

It tests Genetic and metabolic disorders: Apert versus Crouzon syndrome in Pediatrics. Apert syndrome also has symmetric complex syndactyly of the hands and feet, giving a mitten appearance, and Crouzon syndrome has normal hands and feet.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Genetic and metabolic disorders: Apert versus Crouzon syndrome?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.