Paediatric orthopaedics: diastrophic dysplasia: practice question

A Orthopaedics 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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Orthopaedics · Paediatric orthopaedics: diastrophic dysplasia

Sample item

A newborn has short limbs, a thumb that sticks out sideways like a hitchhiker's, cystic swelling of the pinna, bilateral clubfeet and a cleft palate. Which skeletal dysplasia is this?

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

The answer and the reasoning

D. Diastrophic dysplasia

Diastrophic dysplasia is an autosomal recessive sulphate transporter disorder (SLC26A2). Features include a hitchhiker thumb, cauliflower ears from calcifying pinna cysts, clubfeet, cleft palate and progressive scoliosis. Clubfoot in these patients is rigid and is often resistant to casting.

Option by option

  • A. Campomelic dysplasia

    Campomelic dysplasia has bowed tibiae, a hypoplastic scapula and sex reversal.

  • B. Achondroplasia

    Achondroplasia does not typically include clubfeet, ear cysts or cleft palate.

  • C. Ellis-van Creveld syndrome

    Ellis-van Creveld has polydactyly, nail and tooth dysplasia and congenital heart disease.

  • D. Diastrophic dysplasia (correct)

    Correct. The hitchhiker thumb, ear swelling, clubfeet and cleft palate form the diastrophic pattern.

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 Orthopaedics questions

Questions about this Orthopaedics question

What is the answer to this Orthopaedics question?

The best answer is D, Diastrophic dysplasia. Diastrophic dysplasia is an autosomal recessive sulphate transporter disorder (SLC26A2).

Why is "Campomelic dysplasia" not the answer?

Campomelic dysplasia has bowed tibiae, a hypoplastic scapula and sex reversal.

Why is "Achondroplasia" not the answer?

Achondroplasia does not typically include clubfeet, ear cysts or cleft palate.

Why is "Ellis-van Creveld syndrome" not the answer?

Ellis-van Creveld has polydactyly, nail and tooth dysplasia and congenital heart disease.

What concept does this question test?

It tests Paediatric orthopaedics: diastrophic dysplasia in Orthopaedics. Features include a hitchhiker thumb, cauliflower ears from calcifying pinna cysts, clubfeet, cleft palate and progressive scoliosis. Clubfoot in these patients is rigid and is often resistant to casting.

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 Paediatric orthopaedics: diastrophic dysplasia?

Pair each fracture with its classic complication and nerve injured. Then use the flashcards and the other Orthopaedics 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.