Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.
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.
Yetman
Anji T
AT
Department of Pediatrics, Division of Cardiology, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah 84113, USA. angela.yetman@intermountainmail.org
Beroukhim
Rebecca S
RS
Ivy
Dunbar D
DD
Manchester
David
D
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013577:Syndrome
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II