Ear and audiology: branchio-oto-renal 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: branchio-oto-renal syndrome

Sample item

A 4-year-old has bilateral preauricular pits, a small fistula opening along the anterior border of the sternocleidomastoid and mixed hearing loss. Which investigation should be arranged next to look for an associated anomaly?

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

The answer and the reasoning

D. Renal ultrasound

Preauricular pits, branchial fistulae and hearing loss form the branchio-oto-renal syndrome, an autosomal dominant condition usually due to EYA1 mutation. Renal anomalies range from hypoplasia to agenesis, so a renal ultrasound is advised in every affected child. Hearing loss may be conductive, sensorineural or mixed.

Option by option

  • A. Slit-lamp examination

    Ocular findings such as lenticonus belong to Alport syndrome.

  • B. Echocardiography

    Cardiac defects are a feature of CHARGE syndrome and not of this triad.

  • C. Electrocardiogram with QT measurement

    QT prolongation with deafness occurs in Jervell and Lange-Nielsen syndrome, which has no pits or fistulae.

  • D. Renal ultrasound (correct)

    Correct. Renal malformation is the third component of the syndrome and is screened by ultrasound.

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.

More ENT questions

Questions about this ENT question

What is the answer to this ENT question?

The best answer is D, Renal ultrasound. Preauricular pits, branchial fistulae and hearing loss form the branchio-oto-renal syndrome, an autosomal dominant condition usually due to EYA1 mutation.

Why is "Slit-lamp examination" not the answer?

Ocular findings such as lenticonus belong to Alport syndrome.

Why is "Echocardiography" not the answer?

Cardiac defects are a feature of CHARGE syndrome and not of this triad.

Why is "Electrocardiogram with QT measurement" not the answer?

QT prolongation with deafness occurs in Jervell and Lange-Nielsen syndrome, which has no pits or fistulae.

What concept does this question test?

It tests Ear and audiology: branchio-oto-renal syndrome in ENT. Renal anomalies range from hypoplasia to agenesis, so a renal ultrasound is advised in every affected child. Hearing loss may be conductive, sensorineural or mixed.

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 Ear and audiology: branchio-oto-renal 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.