Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 17470566.
- Also identified by PMC identifier 3131201.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Abnormalities, Multiple
- Aortic Aneurysm, Thoracic
- Receptors, Transforming Growth Factor beta