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Pediatrics. 2007 May;119(5):e1199-202.

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.

Author information

1
Department of Pediatrics, Division of Cardiology, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah 84113, USA. angela.yetman@intermountainmail.org

Abstract

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.

PMID:
17470566
PMCID:
PMC3131201
DOI:
10.1542/peds.2006-2886
[Indexed for MEDLINE]
Free PMC Article
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