| Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene. | |
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MedLine Citation:
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PMID: 18388785 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who died from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome. |
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Authors:
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Murat Derbent; Deniz Anuk; Aylin Tarcan; Birgül Varan; Berkan Gurakan; Kursad Tokel |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 17 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-04-04 Completed Date: 2008-05-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 127-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey. mderbent@baskent-ank.edu.tr |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Fatal Outcome Heart / physiopathology Heart Failure / etiology, physiopathology Humans Infant, Newborn Male Marfan Syndrome / complications, genetics*, pathology Microfilament Proteins / genetics* Mutation, Missense* Pulmonary Atresia / complications*, physiopathology |
| Chemical | |
Reg. No./Substance:
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0/Microfilament Proteins; 0/fibrillin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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