| Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. | |
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MedLine Citation:
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PMID: 17470566 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis. |
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Authors:
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Anji T Yetman; Rebecca S Beroukhim; Dunbar D Ivy; David Manchester |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatrics Volume: 119 ISSN: 1098-4275 ISO Abbreviation: Pediatrics Publication Date: 2007 May |
Date Detail:
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Created Date: 2007-05-04 Completed Date: 2007-05-29 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: United States |
Other Details:
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Languages: eng Pagination: e1199-202 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatrics, Division of Cardiology, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah 84113, USA. angela.yetman@intermountainmail.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics*,
surgery Aortic Aneurysm, Thoracic / diagnosis*, genetics*, surgery Diagnosis, Differential Female Humans Infant Infant, Newborn Male Mutation Protein-Serine-Threonine Kinases Receptors, Transforming Growth Factor beta / genetics* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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P50 HL084923-01/HL/NHLBI NIH HHS |
| 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 |
| Comments/Corrections | |
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