Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period
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...
Paper Details
Title
Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period
Published Date
May 1, 2007
Journal
Volume
119
Issue
5
Pages
e1199 - e1202
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