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

Anji T. Yetman, Rebecca S. Beroukhim, Dunbar D. Ivy, David Manchester

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)e1199-e1202
JournalPediatrics
Volume119
Issue number5
DOIs
StatePublished - May 2007

Keywords

  • Aortic aneurysm
  • Aortic dissection
  • Gene mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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