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Cardiofacial Syndrome 02

Topic: Pediatric

Created on Tuesday, February 6 2007 by jdmiles

Last modified on Tuesday, February 6 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. Exam also reveals a cleft palate. The child also has cardiac, skeletal, and GI abnormalities. This syndrome is associated with an abnormality on which chromosome?

A) 18

B) 19

C) 22

D) 4

E) 16

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This question was created on February 06, 2007 by jdmiles.
This question was last modified on February 06, 2007.

ANSWERS AND EXPLANATIONS

A) 18

This answer is incorrect.

The child's history and exam are typical of Cardiofacial syndrome, also known as asymmetric crying facies syndrome or Cayler syndrome. This is associated with a deletion at 22q11. (See References)


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B) 19

This answer is incorrect.

The child's history and exam are typical of Cardiofacial syndrome, also known as asymmetric crying facies syndrome or Cayler syndrome. This is associated with a deletion at 22q11. (See References)


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C) 22

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. This is associated with a deletion at 22q11. (See References)


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D) 4

This answer is incorrect.

The child's history and exam are typical of Cardiofacial syndrome, also known as asymmetric crying facies syndrome or Cayler syndrome. This is associated with a deletion at 22q11. (See References)


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E) 16

This answer is incorrect.

The child's history and exam are typical of Cardiofacial syndrome, also known as asymmetric crying facies syndrome or Cayler syndrome. This is associated with a deletion at 22q11. (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 02
Question ID: 020607069
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/06/2007
Modified: 02/06/2007
Estimated Permutations: 1275120

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