Malformations 05

Topic: Pathology

Created on Sunday, February 15 2009 by gliageek

Last modified on Sunday, February 15 2009.

 
        A) Norman-Roberts syndrome
 
        B) Tuberous sclerosis
 
        C) Miller-Dieker syndrome
 
        D) Zellweger syndrome
 
        E) Walker-Warburg syndrome
 

 

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This question was created on February 15, 2009 by gliageek.
This question was last modified on February 15, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Norman-Roberts syndrome

This answer is incorrect.

Lissencephaly with low sloping forehead and prominent nasal bridge, secondary to RLN mutation  (See References)

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B) Tuberous sclerosis

This answer is incorrect.

CNS hamartomas (tubers)  (See References)

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C) Miller-Dieker syndrome

This answer is incorrect.

Lissencephaly, heterotopias, facial dysmorphism  (See References)

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D) Zellweger syndrome

This answer is incorrect.

Polymicrogyria, subependymal cysts, cerebellar heterotopia  (See References)

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E) Walker-Warburg syndrome

This answer is correct.

HARD+E syndrome: hydrocephalus, agyria, retinal dysplasia + encephalocele.  (See References)

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References:

1. Love, S., Louis, D.N., and Ellison, D.W. (2008). Greenfield's Neuropathology, 8th Edition. Oxford University Press, USA (ISBN:0340906820)

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pathology
Malformations 05
Question ID: 021509123
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/15/2009
Modified: 02/15/2009
Estimated Permutations: 120