新生儿期临床识别洛伊斯-迪茨综合征的重要性。
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.
作者信息
Yetman Anji T, Beroukhim Rebecca S, Ivy Dunbar D, Manchester David
机构信息
Department of Pediatrics, Division of Cardiology, Primary Children's Medical Center, University of Utah, Salt Lake City, Utah 84113, USA.
出版信息
Pediatrics. 2007 May;119(5):e1199-202. doi: 10.1542/peds.2006-2886.
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.
摘要
我们描述了5例在新生儿期出现肌肉骨骼异常的患者。所有患者最初都被怀疑患有拉森综合征或比尔斯综合征，但随后被诊断出患有TGFBR2突变，确诊为洛伊斯-迪茨综合征。患者主动脉逐渐增粗，3例患者需要进行手术干预，1例患者死亡。洛伊斯-迪茨综合征诊断延迟可能与不良预后相关。
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