Self-Mutilation 01

Topic: Pediatric

Created on Sunday, October 26 2008 by jdmiles

Last modified on Sunday, October 26 2008.

 
        A) Lesch-Nyhan syndrome
 
        B) Choreoacanthocytosis
 
        C) Cri-du-chat syndrome
 
        D) Angelman syndrome
 
        E) Gilles de la Tourette syndrome
 

 

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This question was created on October 26, 2008 by jdmiles.
This question was last modified on October 26, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Lesch-Nyhan syndrome

This answer is incorrect.

Self-mutilation is frequent in Gilles de la Tourette syndrome, Lesch-Nyhan syndrome, and choreoacanthocytosis. It has also been reported in cases of Smith-Magenis syndrome, Cri-du-chat syndrome, and Joubert syndrome.  (See References)

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B) Choreoacanthocytosis

This answer is incorrect.

Self-mutilation is frequent in Gilles de la Tourette syndrome, Lesch-Nyhan syndrome, and choreoacanthocytosis. It has also been reported in cases of Smith-Magenis syndrome, Cri-du-chat syndrome, and Joubert syndrome.  (See References)

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C) Cri-du-chat syndrome

This answer is incorrect.

Self-mutilation is frequent in Gilles de la Tourette syndrome, Lesch-Nyhan syndrome, and choreoacanthocytosis. It has also been reported in cases of Smith-Magenis syndrome, Cri-du-chat syndrome, and Joubert syndrome.  (See References)

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D) Angelman syndrome

This answer is correct.

Self-mutilation is not characteristic of Angelman syndrome.  (See References)

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E) Gilles de la Tourette syndrome

This answer is incorrect.

Self-mutilation is frequent in Gilles de la Tourette syndrome, Lesch-Nyhan syndrome, and choreoacanthocytosis. It has also been reported in cases of Smith-Magenis syndrome, Cri-du-chat syndrome, and Joubert syndrome.  (See References)

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References:

1. Online Mendelian Inheritance in Man Database (OMIM:137580).	Link to OMIM DATABASE
2. Online Mendelian Inheritance in Man Database (OMIM:200150).	Link to OMIM DATABASE
3. Online Mendelian Inheritance in Man Database (OMIM:123450).	Link to OMIM DATABASE
4. Maramattom, B.V. (2005). "Self-mutilation in the Lesch-Nyhan syndrome." Neurology, 65(11) E25. (PMID:16344506)
5. Online Mendelian Inheritance in Man Database (OMIM:300322).	Link to OMIM DATABASE
6. Online Mendelian Inheritance in Man Database (OMIM:182290).	Link to OMIM DATABASE
7. Online Mendelian Inheritance in Man Database (OMIM:176270).	Link to OMIM DATABASE
8. Online Mendelian Inheritance in Man Database (OMIM:105830).	Link to OMIM DATABASE

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pediatric
Self-Mutilation 01
Question ID: 102608147
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/26/2008
Modified: 10/26/2008
Estimated Permutations: 1800