Congenital central hypoventilation syndrome.

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Congenital central hypoventilation syndrome. Abstract Text:

P G Samdani,Vinit Samdani,Mahesh Balsekar,Akhil Goel,P G Samdani,Vinit Samdani,Mahesh Balsekar,Akhil Goel,

Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body "forgets to breathe". The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung's Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.

Congenital central hypoventilation syndrome. Publishing Authors By Initials

PG Samdani,V Samdani,M Balsekar,A Goel,PG Samdani,V Samdani,M Balsekar,A Goel,

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Congenital central hypoventilation syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Indian journal of pediatrics

VOLUME: 74

Page Numbers: 953-5

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ISSN: 0973-1679

DAY: 5

MONTH: Oct

YEAR: 2007

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LANGUAGE: eng

NlmUniqueID: 417442

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Grant and Affiliation Information for Congenital central hypoventilation syndrome.

AFFILIATION: Department of Pedatrics, Sir J.J. Group of Hospitals, Mumbai, India.

Country: India

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MEDLINETA: Indian J Pediatr

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