Medical genetics: Turner syndrome: practice question

A Anatomy 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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Anatomy · Medical genetics: Turner syndrome

Sample item

A newborn girl with 45,X karyotype has puffy swelling over the dorsum of the hands and feet and redundant skin at the back of the neck. What is the cause of these features?

AHypoplasia of lymphatic channels with distended jugular lymph sacs in fetal lifeBCongenital hypothyroidismCCongestive cardiac failure from aortic coarctationDHypoalbuminaemia from renal anomalies

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

The answer and the reasoning

A. Hypoplasia of lymphatic channels with distended jugular lymph sacs in fetal life

Turner syndrome is associated with defective lymphatic drainage, so there is fetal cystic hygroma that regresses to leave a webbed neck and peripheral lymphoedema of the hands and feet at birth. It also features streak gonads, short stature, aortic coarctation and horseshoe kidney.

Option by option

A. Hypoplasia of lymphatic channels with distended jugular lymph sacs in fetal life (correct)
Correct. Lymphatic hypoplasia explains the webbed neck and puffy hands and feet.
B. Congenital hypothyroidism
Hypothyroidism is a later association and does not cause this neonatal picture.
C. Congestive cardiac failure from aortic coarctation
Cardiac failure from coarctation is not the usual cause of neonatal lymphoedema of the extremities.
D. Hypoalbuminaemia from renal anomalies
Renal anomalies in Turner syndrome do not typically cause hypoalbuminaemia at birth.

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.

Questions about this Anatomy question

What is the answer to this Anatomy question?

The best answer is A, Hypoplasia of lymphatic channels with distended jugular lymph sacs in fetal life. Turner syndrome is associated with defective lymphatic drainage, so there is fetal cystic hygroma that regresses to leave a webbed neck and peripheral lymphoedema of the hands and feet at birth.

Why is "Congenital hypothyroidism" not the answer?

Hypothyroidism is a later association and does not cause this neonatal picture.

Why is "Congestive cardiac failure from aortic coarctation" not the answer?

Cardiac failure from coarctation is not the usual cause of neonatal lymphoedema of the extremities.

Why is "Hypoalbuminaemia from renal anomalies" not the answer?

Renal anomalies in Turner syndrome do not typically cause hypoalbuminaemia at birth.

What concept does this question test?

It tests Medical genetics: Turner syndrome in Anatomy. It also features streak gonads, short stature, aortic coarctation and horseshoe kidney.

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 Medical genetics: Turner syndrome?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.