Published online April 30, 2007
PEDIATRICS Vol. 119 No. 5 May 2007, pp. e1199-e1202 (doi:10.1542/peds.2006-2886)
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EXPERIENCE & REASON

Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period

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

b Department of Pediatrics, Divisions of Cardiology and Genetics, Children's Hospital, University of Colorado Health Sciences Center, Denver, Colorado
a Department of Pediatrics, Division of Cardiology, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah

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.

Key Words: aortic aneurysm • aortic dissection • gene mutation

Abbreviations: TGF-ß, transforming growth factor ß • CT, computed tomography • PDA, patent ductus arteriosus • ACE, angiotensin-converting enzyme

Accepted Nov 14, 2006.


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