Ear and audiology: Stickler syndrome: practice question

A ENT 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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ENT · Ear and audiology: Stickler syndrome

Sample item

A newborn with micrognathia, glossoptosis and a cleft palate later develops high myopia, retinal detachment, joint hypermobility and mild sensorineural hearing loss. Which protein is defective?

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

The answer and the reasoning

B. Type II collagen

Stickler syndrome is usually due to mutations in the type II collagen gene (COL2A1), affecting vitreous, cartilage and inner ear. It is the commonest cause of Pierre Robin sequence with eye and joint features. Children need ophthalmology review for retinal detachment risk.

Option by option

  • A. Fibroblast growth factor receptor 2

    Fibroblast growth factor receptor 2 mutations cause craniosynostosis syndromes such as Apert and Crouzon.

  • B. Type II collagen (correct)

    Correct. Type II collagen defects in Stickler syndrome affect eye, joint, palate and cochlea.

  • C. Type I collagen

    Type I collagen is defective in osteogenesis imperfecta, with blue sclerae and fractures.

  • D. Fibrillin-1

    Fibrillin-1 is defective in Marfan syndrome, with ectopia lentis and aortic root dilatation.

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.

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Questions about this ENT question

What is the answer to this ENT question?

The best answer is B, Type II collagen. Stickler syndrome is usually due to mutations in the type II collagen gene (COL2A1), affecting vitreous, cartilage and inner ear.

Why is "Fibroblast growth factor receptor 2" not the answer?

Fibroblast growth factor receptor 2 mutations cause craniosynostosis syndromes such as Apert and Crouzon.

Why is "Type I collagen" not the answer?

Type I collagen is defective in osteogenesis imperfecta, with blue sclerae and fractures.

Why is "Fibrillin-1" not the answer?

Fibrillin-1 is defective in Marfan syndrome, with ectopia lentis and aortic root dilatation.

What concept does this question test?

It tests Ear and audiology: Stickler syndrome in ENT. It is the commonest cause of Pierre Robin sequence with eye and joint features. Children need ophthalmology review for retinal detachment risk.

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 Ear and audiology: Stickler syndrome?

Learn tuning fork results and audiogram patterns by sketching them. Then use the flashcards and the other ENT 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.