| Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics. | |
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MedLine Citation:
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PMID: 19784002 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a case of Congenital Central Hypoventilation syndrome (CCHS), diagnosed in utero at 18 weeks' gestation analysis of repeats in the PHOX2b gene in fetal amniocytes and confirmed at delivery. Prenatal diagnosis allowed for serial detailed assessment of fetal breathing characteristics. Fetal breathing in this affected fetus was indistinguishable from breathing characteristics in the non-affected fetus. |
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Authors:
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G P Rajendran; M S Kessler; F A Manning |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of perinatology : official journal of the California Perinatal Association Volume: 29 ISSN: 1476-5543 ISO Abbreviation: J Perinatol Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-09-28 Completed Date: 2010-01-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8501884 Medline TA: J Perinatol Country: United States |
Other Details:
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Languages: eng Pagination: 712-3 Citation Subset: IM |
Affiliation:
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Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, New York Medical College/Westchester Medical Center, Valhalla, NY, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amniocentesis Female Homeodomain Proteins / genetics Humans Infant, Newborn Monitoring, Ambulatory Pregnancy Prenatal Diagnosis* Respiration* Sleep Apnea, Central / congenital, diagnosis*, physiopathology* Transcription Factors / genetics Trinucleotide Repeats / genetics Young Adult |
| 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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