Orthodontics: Treacher Collins syndrome: practice question

A Dentistry 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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Dentistry · Orthodontics: Treacher Collins syndrome

Sample item

A newborn has downward-slanting palpebral fissures, malar hypoplasia, a receding chin, malformed ears and conductive deafness. What is the diagnosis?

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

The answer and the reasoning

B. Treacher Collins syndrome

Treacher Collins syndrome (mandibulofacial dysostosis) arises from TCOF1 mutation affecting first and second arch neural crest cells. It features malar hypoplasia, ear anomalies and micrognathia.

Option by option

  • A. Down syndrome

    Down syndrome shows flat face and upslanting fissures.

  • B. Treacher Collins syndrome (correct)

    Correct. This facial pattern with ear anomalies is typical.

  • C. Marfan syndrome

    Marfan syndrome shows tall stature and lens subluxation.

  • D. Crouzon syndrome

    Crouzon syndrome shows craniosynostosis with midface hypoplasia and normal ears.

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 Dentistry question

What is the answer to this Dentistry question?

The best answer is B, Treacher Collins syndrome. Treacher Collins syndrome (mandibulofacial dysostosis) arises from TCOF1 mutation affecting first and second arch neural crest cells.

Why is "Down syndrome" not the answer?

Down syndrome shows flat face and upslanting fissures.

Why is "Marfan syndrome" not the answer?

Marfan syndrome shows tall stature and lens subluxation.

Why is "Crouzon syndrome" not the answer?

Crouzon syndrome shows craniosynostosis with midface hypoplasia and normal ears.

What concept does this question test?

It tests Orthodontics: Treacher Collins syndrome in Dentistry. It features malar hypoplasia, ear anomalies and micrognathia.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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 Orthodontics: Treacher Collins syndrome?

Learn the dental formula, eruption ages and tooth structure once, as tables. Then use the flashcards and the other Dentistry 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.