Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature

被引：0
作者：
Francesco Baldo
Laura Morra
Agnese Feresin
Flavio Faletra
Yasmin Al Naber
Luigi Memo
Laura Travan
机构：
[1] Surgery and Health Sciences,University of Trieste, Department of Medicine
[2] Department of Genetics,undefined
[3] Institute for Maternal and Child Health IRCCS “Burlo Garofolo”,undefined
[4] Clinical Genetics Outpatient Service,undefined
[5] Pediatric Unit,undefined
[6] “San Giovanni e Paolo” Hospital,undefined
[7] Department of Neonatology,undefined
[8] Institute for Maternal and Child Health IRCCS “Burlo Garofolo”,undefined
来源：
Italian Journal of Pediatrics | / 48卷
关键词：
Loeys-Dietz syndrome; Newborn; Aneurysm; Connective tissue disorder;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 273 条
[1]  
Loeys BL(2005)A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Nat Genet 37 275-281
[2]  
Chen J(2014)Loeys-Dietz syndrome Adv Exp Med Biol 802 95-105
[3]  
Neptune ER(2006)Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome Prenat Diagn 26 1081-1083
[4]  
Judge DP(2013)Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy Eur J Pediatr 172 997-1005
[5]  
Podowski M(2008)The many faces of aggressive aortic pathology: Loeys-Dietz syndrome Neth Hear J 16 299-304
[6]  
Holm T(2017)Management of Scoliosis in patients with Loeys-Dietz syndrome J Pediatr Orthop 37 e492-e499
[7]  
Meyers J(2018)Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome Res Dev Disabil 83 153-159
[8]  
Leitch CC(2009)New regulatory mechanisms of TGF-beta receptor function Trends Cell Biol 19 385-394
[9]  
Katsanis N(2017)Are patients with Loeys-Dietz syndrome misdiagnosed with Beals syndrome? Pediatrics. 139 e20161281-1000
[10]  
Sharifi N(2018)Question 2: in children with Marfan's should we beta block from point of diagnosis? Arch Dis Child 103 997-372
12345678910