Genetic and metabolic disorders: osteogenesis imperfecta: 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: osteogenesis imperfecta

Sample item

An infant has multiple fractures after minimal trauma, blue sclerae and hearing loss in the family. Which defect and which treatment apply?

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

The answer and the reasoning

D. Type I collagen defect; bisphosphonates

Osteogenesis imperfecta is caused by mutations in type I collagen genes, giving brittle bones, blue sclerae, dentinogenesis imperfecta and hearing loss. Bisphosphonates increase bone density and reduce fractures.

Option by option

  • A. FGFR3 defect; growth hormone

    FGFR3 defect causes achondroplasia.

  • B. Type II collagen defect; vitamin D alone

    Type II collagen defects cause chondrodysplasias.

  • C. Fibrillin defect; beta blockers

    Fibrillin defect causes Marfan syndrome.

  • D. Type I collagen defect; bisphosphonates (correct)

    Correct. Type I collagen defect with bisphosphonate therapy.

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 Pediatrics question

What is the answer to this Pediatrics question?

The best answer is D, Type I collagen defect; bisphosphonates. Osteogenesis imperfecta is caused by mutations in type I collagen genes, giving brittle bones, blue sclerae, dentinogenesis imperfecta and hearing loss.

Why is "FGFR3 defect; growth hormone" not the answer?

FGFR3 defect causes achondroplasia.

Why is "Type II collagen defect; vitamin D alone" not the answer?

Type II collagen defects cause chondrodysplasias.

Why is "Fibrillin defect; beta blockers" not the answer?

Fibrillin defect causes Marfan syndrome.

What concept does this question test?

It tests Genetic and metabolic disorders: osteogenesis imperfecta in Pediatrics. Bisphosphonates increase bone density and reduce fractures.

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 Genetic and metabolic disorders: osteogenesis imperfecta?

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.