Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period
AT Yetman, RS Beroukhim, DD Ivy, D Manchester - Pediatrics, 2007 - publications.aap.org
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.
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.