Document Detail

Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.
MedLine Citation:
PMID:  16981219     Owner:  NLM     Status:  MEDLINE    
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.
Valeria Viassolo; Mario Lituania; Maurizio Marasini; Harry Dietz; Fabrizio Benelli; Francesca Forzano; Francesca Faravelli
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-11-06     Completed Date:  2007-02-27     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1081-3     Citation Subset:  IM    
Human Genetics Department, Galliera Hospital, Genova, Italy.
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MeSH Terms
Abnormalities, Multiple / genetics*
Aortic Aneurysm, Thoracic / genetics*,  ultrasonography
Craniofacial Abnormalities / genetics*
Mouth Abnormalities / genetics*
Prenatal Diagnosis
Protein-Serine-Threonine Kinases
Receptors, Transforming Growth Factor beta / genetics*
Reg. No./Substance:
0/Receptors, Transforming Growth Factor beta; EC Kinases; EC growth factor-beta type II receptor

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