Literature DB >> 17470566

Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.

Anji T Yetman1, Rebecca S Beroukhim, Dunbar D Ivy, David Manchester.   

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.

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Year:  2007        PMID： 17470566      PMCID： PMC3131201          DOI： 10.1542/peds.2006-2886

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  11 in total

1.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Authors:  Bart L Loeys; Junji Chen; Enid R Neptune; Daniel P Judge; Megan Podowski; Tammy Holm; Jennifer Meyers; Carmen C Leitch; Nicholas Katsanis; Neda Sharifi; F Lauren Xu; Loretha A Myers; Philip J Spevak; Duke E Cameron; Julie De Backer; Jan Hellemans; Yan Chen; Elaine C Davis; Catherine L Webb; Wolfram Kress; Paul Coucke; Daniel B Rifkin; Anne M De Paepe; Harry C Dietz
Journal:  Nat Genet       Date:  2005-01-30       Impact factor: 38.330

2.  Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.

Authors:  E Bawle; M H Quigg
Journal:  Am J Med Genet       Date:  1992-01-01

3.  Multiple congenital dislocations associated with characteristic facial abnormality.

Authors:  L J LARSEN; E R SCHOTTSTAEDT; F C BOST
Journal:  J Pediatr       Date:  1950-10       Impact factor: 4.406

4.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

5.  "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.

Authors:  F Hecht; R K Beals
Journal:  Pediatrics       Date:  1972-04       Impact factor: 7.124

6.  Long tortuous aorta in a child with Larsen syndrome.

Authors:  Osman Baspinar; Metin Kilinc; Ayse Balat; Mehmet Adnan Celkan; Yavuz Coskun
Journal:  Can J Cardiol       Date:  2005-03       Impact factor: 5.223

7.  Isolated ductus arteriosus aneurysm in the fetus and infant: a multi-institutional experience.

Authors:  U Dyamenahalli; J F Smallhorn; T Geva; J C Fouron; P Cairns; L Jutras; V Hughes; M Rabinovitch; C A Mason; L K Hornberger
Journal:  J Am Coll Cardiol       Date:  2000-07       Impact factor: 24.094

8.  Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Authors:  Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz
Journal:  N Engl J Med       Date:  2006-08-24       Impact factor: 91.245

9.  Cardiovascular manifestations in the Larsen syndrome.

Authors:  E A Kiel; J L Frias; B E Victorica
Journal:  Pediatrics       Date:  1983-06       Impact factor: 7.124

10.  Larsen syndrome and its anaesthetic considerations.

Authors:  Pavan Malik; Dinesh K Choudhry
Journal:  Paediatr Anaesth       Date:  2002-09       Impact factor: 2.556
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  17 in total

Review 1.  Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.

Authors:  Vivek B Kalra; John W Gilbert; Ajay Malhotra
Journal:  Pediatr Radiol       Date:  2011-07-23

2.  Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.

Authors:  B Suarez; A Caldera; M Castillo
Journal:  Interv Neuroradiol       Date:  2011-04-18       Impact factor: 1.610

3.  TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

Authors:  Ian M Campbell; Katarzyna E Kolodziejska; Michael M Quach; Varina Louise Wolf; Sau Wai Cheung; Seema R Lalani; Melissa B Ramocki; Pawel Stankiewicz
Journal:  Am J Med Genet A       Date:  2011-05-12       Impact factor: 2.802

4.  Association between blood spot transforming growth factor-β and patent ductus arteriosus in extremely low-birth weight infants.

Authors:  Girija Natarajan; Seetha Shankaran; Scott A McDonald; Abhik Das; Richard A Ehrenkranz; Ronald N Goldberg; Barbara J Stoll; Jon E Tyson; Rosemary D Higgins; Diana Schendel; David M Hougaard; Kristin Skogstrand; Poul Thorsen; Waldemar A Carlo
Journal:  Pediatr Cardiol       Date:  2012-06-10       Impact factor: 1.655

5.  Medical record and imaging evaluation to identify arterial tortuosity phenotype in populations at risk for intracranial aneurysms.

Authors:  Karl T Diedrich; John A Roberts; Richard H Schmidt; Lisa A Cannon Albright; Anji T Yetman; Dennis L Parker
Journal:  AMIA Annu Symp Proc       Date:  2011-10-22

6.  A patient with Loeys-Dietz syndrome treated with chemoradiotherapy for an oropharyngeal carcinoma.

Authors:  Andrew K Chan; Daren Teoh; Paul Matthews; Lydia Fresco
Journal:  BMJ Case Rep       Date:  2013-09-17

Review 7.  A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.

Authors:  A Jamsheer; C Henggeler; J Wierzba; B Loeys; A De Paepe; Ch Stheneur; N Badziag; K Matuszewska; G Matyas; A Latos-Bielenska
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

8.  Gastric pseudoaneurysm in the setting of Loey's Dietz Syndrome.

Authors:  Ml Likes; Ta Johnston
Journal:  Images Paediatr Cardiol       Date:  2012-07

9.  Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice.

Authors:  Jun-ichi Iwata; Joseph G Hacia; Akiko Suzuki; Pedro A Sanchez-Lara; Mark Urata; Yang Chai
Journal:  J Clin Invest       Date:  2012-02-13       Impact factor: 19.456

10.  Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.

Authors:  Lin Zhang; Ling-Gen Gao; Ming Zhang; Xian-Liang Zhou
Journal:  Mol Vis       Date:  2012-01-11       Impact factor: 2.367
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