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Cardiofacial Syndrome 01

Topic: Pediatric

Created on Monday, February 5 2007 by jdmiles

Last modified on Monday, February 5 2007.

A concerned mother brings in her 3-day old daughter to your clinic for concerns of facial asymmetry. While the mother is holding the infant, you notice no abnormalities in her face. However, when you begin to examine the child, she begins to cry, producing a droop on the left side of the mouth. Of the following tests, which should you obtain first?

A) EKG

B) TSH

C) Lumbar puncture

D) Plain film X-rays

E) CBC

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This question was created on February 05, 2007 by jdmiles.
This question was last modified on February 05, 2007.

ANSWERS AND EXPLANATIONS

A) EKG

This answer is correct.

The child's history and exam are typical of Cardiofacial syndrome, also known as asymmetric crying facies syndrome or Cayler syndrome. Cardiac abnormalities are common in this syndrome. (See References)


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B) TSH

This answer is incorrect.

Thyroid hormone abnormalities are not classic findings in this syndrome. (See References)


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C) Lumbar puncture

This answer is incorrect.

Lumbar puncture is likely to be of low yield in this case. (See References)


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D) Plain film X-rays

This answer is incorrect.

While this syndrome is associated with skeletal abnormalities, it is probably more important to assess the patient's cardiac status. (See References)


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E) CBC

This answer is incorrect.

CBC is likely to be of low yield in this case. (See References)


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References:

1. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia.


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pediatric
Cardiofacial Syndrome 01
Question ID: 020507153
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/05/2007
Modified: 02/05/2007
Estimated Permutations: 120