Syndromes: Treacher Collins: 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 · Syndromes: Treacher Collins

Sample item

A child has downward-slanting palpebral fissures, malar hypoplasia, a notched lower eyelid, microtia and conductive deafness. What is the inheritance pattern of this syndrome?

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

The answer and the reasoning

A. Autosomal dominant

Treacher Collins syndrome (mandibulofacial dysostosis) results from TCOF1 mutations and is autosomal dominant. It arises from first and second arch defects. Hearing loss is conductive from ossicular and canal malformations.

Option by option

  • A. Autosomal dominant (correct)

    Correct. It is an autosomal dominant condition.

  • B. Mitochondrial

    Mitochondrial inheritance is not seen here.

  • C. Autosomal recessive

    Recessive inheritance applies to conditions such as Usher and Pendred syndromes.

  • D. X-linked recessive

    X-linked inheritance is not seen here.

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 A, Autosomal dominant. Treacher Collins syndrome (mandibulofacial dysostosis) results from TCOF1 mutations and is autosomal dominant.

Why is "Mitochondrial" not the answer?

Mitochondrial inheritance is not seen here.

Why is "Autosomal recessive" not the answer?

Recessive inheritance applies to conditions such as Usher and Pendred syndromes.

Why is "X-linked recessive" not the answer?

X-linked inheritance is not seen here.

What concept does this question test?

It tests Syndromes: Treacher Collins in ENT. It arises from first and second arch defects. Hearing loss is conductive from ossicular and canal malformations.

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 Syndromes: Treacher Collins?

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.