| Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome. | |
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MedLine Citation:
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PMID: 16981219 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Loeys-Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta-receptor 1 (TGFBR1) or transforming growth factor beta-receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course. We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys-Dietz syndrome. |
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Authors:
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Valeria Viassolo; Mario Lituania; Maurizio Marasini; Harry Dietz; Fabrizio Benelli; Francesca Forzano; Francesca Faravelli |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 26 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 2006 Nov |
Date Detail:
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Created Date: 2006-11-06 Completed Date: 2007-02-27 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
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Languages: eng Pagination: 1081-3 Citation Subset: IM |
Affiliation:
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Human Genetics Department, Galliera Hospital, Genova, Italy. valeria.viassolo@galliera.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Aortic Aneurysm, Thoracic / genetics*, ultrasonography Craniofacial Abnormalities / genetics* Female Humans Infant Mouth Abnormalities / genetics* Mutation Pregnancy Prenatal Diagnosis Protein-Serine-Threonine Kinases Receptors, Transforming Growth Factor beta / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Transforming Growth Factor beta; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.30/transforming growth factor-beta type II receptor |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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