| Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis. | |
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MedLine Citation:
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PMID: 20455198 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome. Within few hours after birth, progressive and refractory heart failure developed. Postmortal molecular study revealed an unusually large deletion of exons 24-26 within the so-called neonatal region of the gene FBN1, which might explain the unfavourable course of the disease in our patient. |
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Authors:
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C Apitz; S Mackensen-Haen; M Girisch; G Kerst; G Wiegand; M Stuhrmann; K Niethammer; G Behrwind; M Hofbeck |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-05-07 |
Journal Detail:
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Title: Klinische Pädiatrie Volume: 222 ISSN: 1439-3824 ISO Abbreviation: Klin Padiatr Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-28 Completed Date: 2010-12-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0326144 Medline TA: Klin Padiatr Country: Germany |
Other Details:
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Languages: eng Pagination: 261-3 Citation Subset: IM |
Copyright Information:
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(c) Georg Thieme Verlag KG Stuttgart-New York. |
Affiliation:
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Abteilung Kinderheilkunde II, Universitäts-Kinderklinik Tübingen, Hoppe-Seyler-Strasse 1, Tübingen, Germany. christian.apitz@med.uni-tuebingen.de |
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Deletion* Disease Progression Echocardiography Exons / genetics* Fatal Outcome Female Heart Failure / diagnosis*, genetics*, pathology Humans Infant, Newborn Marfan Syndrome / diagnosis*, genetics*, pathology Microfilament Proteins / genetics* Myocardium / pathology Phenotype Pneumopericardium / diagnosis, genetics, pathology Pneumothorax / diagnosis, genetics, pathology Pregnancy Prognosis Pulmonary Atresia / diagnosis, genetics, pathology Tricuspid Valve Insufficiency / diagnosis, genetics, pathology |
| Chemical | |
Reg. No./Substance:
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0/Microfilament Proteins; 0/fibrillin |
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