| Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. | |
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MedLine Citation:
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PMID: 18230845 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congenital hypoventilation syndrome in conjunction with Haddad syndrome. Recent work has associated polyalanine repeats within the PHOX2B gene on chromosome 4p12 with central congenital hypoventilation syndrome, whereas PHOX2B knockout mice develop aganglionic bowels. |
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Authors:
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Daniel Lai; Brian Schroer |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-01-29 |
Journal Detail:
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Title: Journal of child neurology Volume: 23 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-02-28 Completed Date: 2008-04-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: Canada |
Other Details:
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Languages: eng Pagination: 341-3 Citation Subset: IM |
Affiliation:
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College of Medicine, Ohio State University, Columbus, OH, USA. Lai.132@osu.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Apnea / complications, genetics*, therapy DNA Repeat Expansion Hirschsprung Disease / complications, genetics* Homeodomain Proteins / genetics* Humans Hypoventilation / complications, congenital, genetics* Infant Infant, Newborn Intestine, Large / abnormalities, pathology Male Syndrome Transcription Factors / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/NBPhox protein; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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